Affinage

PDE6G

Retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma · UniProt P18545

Length
87 aa
Mass
9.6 kDa
Annotated
2026-06-10
53 papers in source corpus 16 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/6 claims corpus-supported (83%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PDE6G encodes the inhibitory gamma subunit of the rod photoreceptor cGMP-phosphodiesterase (PDE6), a holoenzyme in which two identical gamma subunits regulate the PDE6alpha/beta catalytic core that drives phototransduction (PMID:2161380). The C-terminal residues of PDE6G are required both to maintain catalytic activity and to stabilize the alpha and beta subunits in vivo: deletion of the terminal seven residues abolishes rescue of photoreceptor survival and lowers PDE6alpha/beta content, while loss of the two C-terminal isoleucines (Ile86/Ile87) reduces inhibition of the catalytic core and elevates basal PDE6 activity in darkness (PMID:11853759, PMID:21920434). Discrete residues contribute differentially to in vivo regulation — Tyr84 is needed for full transducin-dependent activation, whereas Asn74, which suppresses catalysis in vitro, is dispensable in vivo — establishing that intact-tissue regulation is more dynamic than cell-free assays predict (PMID:11171042, PMID:21616145). PDE6 subunit levels are mutually interdependent, as loss of PDE6A in a canine model eliminates PDE6B and PDE6G protein and enzymatic activity (PMID:18775863). Loss-of-function splice-site mutation in PDE6G causes autosomal recessive early-onset retinitis pigmentosa in humans, and Pde6g-null mice undergo rapid early rod degeneration followed by retinal remodeling (PMID:20655036, PMID:37363133). PDE6G expression is controlled by a ZNF124–MSX2 transcriptional axis, and the subunit is also expressed outside the retina in lung (PMID:41708596, PMID:11944991).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 1990 Medium

    Establishing the molecular identity of PDE6G defined it as the conserved inhibitory gamma subunit of rod PDE6, framing all subsequent functional work.

    Evidence cDNA cloning, sequencing, Northern blotting, and somatic cell hybrid chromosomal mapping

    PMID:2161380

    Open questions at the time
    • Inhibitory mechanism inferred from sequence/complex composition, not directly assayed here
    • No structural model of gamma-catalytic core interaction
  2. 2001 High

    In vivo complementation resolved which PDE6G domains are functionally required, showing the C-terminus maintains catalytic activity and stabilizes PDE6alpha/beta while Tyr84 supports transducin-dependent activation.

    Evidence Transgenic mouse rescue on Pdeg-null background with ERG, suction electrode, in vitro PDE activity assays, and immunoblot

    PMID:11171042 PMID:11853759

    Open questions at the time
    • Atomic basis of C-terminal stabilization of catalytic subunits not defined
    • Quantitative discrepancy between in vitro and in vivo Y84G phenotypes unexplained
  3. 2001 Medium

    A pharmacogenetic test showed reduced PDE6G dosage sensitizes the retina to PDE inhibition, linking gamma-subunit abundance to functional reserve.

    Evidence ERG in heterozygous Pde6g-knockout mice challenged with sildenafil

    PMID:11157892

    Open questions at the time
    • Mechanism of dosage sensitivity at the holoenzyme level not dissected
    • Heterozygote phenotype only revealed under pharmacological challenge
  4. 2002 Low

    Detection of PDE6G transcript and protein in lung, and an alternatively spliced retinal isoform, extended the gene's expression beyond canonical rod photoreceptors.

    Evidence RT-PCR, isoform-specific immunoblot with knockout controls, and EST analysis of retina cDNA libraries

    PMID:11944991 PMID:12107411

    Open questions at the time
    • Functional role of PDE6G in lung not established
    • Splice variant lacks functional follow-up
    • Non-retinal PDE6 holoenzyme composition unknown
  5. 2003 Medium

    An allelic series mapped distinct PDE6G structural domains onto separable activation and deactivation phases of phototransduction, explaining the night-blindness-to-degeneration phenotypic spectrum.

    Evidence Transgenic mouse allelic series (Pdeg-tm, Del7C, Y84G, W70A) with ERG and retinal morphology

    PMID:12700134

    Open questions at the time
    • Per-residue contributions to deactivation kinetics not biochemically isolated
    • Single-lab phenotyping
  6. 2008 Medium

    Cross-species genetics showed the PDE6 subunits are mutually dependent for stability, with PDE6A loss eliminating PDE6B, PDE6G, and enzymatic activity.

    Evidence Western blot and PDE6 activity assay in PDE6A-mutant dog retinas

    PMID:18775863

    Open questions at the time
    • Directionality of stabilization (which subunit chaperones which) not fully resolved
    • Mechanism of co-degradation unknown
  7. 2010 High

    Identifying a human splice-site mutation established PDE6G as a recessive retinitis pigmentosa gene and showed the gamma subunit has a positive, PDE6-sustaining role in vivo beyond pure inhibition.

    Evidence Homozygosity mapping, Sanger sequencing, in vitro splicing assay, and clinical ERG/OCT across two sibships

    PMID:20655036

    Open questions at the time
    • Whether mutant transcript yields any residual protein not determined
    • Genotype-phenotype correlation across additional alleles limited
  8. 2011 High

    Residue-resolution transgenics showed Ile86/Ile87 are required for inhibitory control of the catalytic core, whereas Asn74 is dispensable in vivo despite in vitro effects, refining the inhibitory mechanism.

    Evidence Transgenic rescue on null background with suction electrode recording, ERG, IBMX probe, and purified-enzyme activity assays

    PMID:21616145 PMID:21920434

    Open questions at the time
    • Structural explanation for in vitro/in vivo divergence at Asn74 unresolved
    • Contribution of other inhibitory contacts not exhaustively mapped
  9. 2012 Medium

    A rod-specific Pde6g mutant linked phototransduction signaling to drug toxicity, showing PDE6G-dependent rod signaling contributes to vigabatrin retinal damage.

    Evidence Pde6g-mutant mouse with vigabatrin treatment and retinal toxicity assessment

    PMID:22970106

    Open questions at the time
    • Downstream molecular pathway of toxicity not defined
    • Generalizability beyond vigabatrin unknown
  10. 2015 Medium

    Demonstrating rod PDE6G can substitute in cones lacking PDE6H showed functional interchangeability of gamma subunits across photoreceptor types.

    Evidence Immunohistochemistry, ERG, and morphology in Pde6h-knockout mice

    PMID:25739440

    Open questions at the time
    • Species difference (mouse rescue vs human PDE6H-null disease) unexplained
    • Stoichiometry of substitution in cone holoenzyme not quantified
  11. 2018 Medium

    Inducible Pde6g-CreERT2 deletion of ARL13B established that PDE6 trafficking to mature outer segments requires ARL13B, situating PDE6G within outer-segment maintenance machinery.

    Evidence Pde6g-CreERT2 inducible conditional knockout with immunofluorescence and ERG

    PMID:30573647

    Open questions at the time
    • Direct ARL13B-PDE6 physical interaction not shown
    • Pde6g-CreERT2 used as a tool rather than the gene under study
  12. 2023 Medium

    Systematic phenotyping of Pde6g-null mice defined the temporal course of disease, from rapid early rod loss to secondary inner retinal, glial, vascular, and RPE remodeling.

    Evidence Immunofluorescence, immunoblot, flat-mount morphometry, acellular capillary assay, and ERG in Pde6g-/- mice

    PMID:37363133

    Open questions at the time
    • Molecular triggers of secondary remodeling not identified
    • Therapeutic window implications not tested
  13. 2024 Medium

    Identifying a ZNF124-MSX2 transcriptional axis upstream of Pde6g defined how the gene's expression is controlled, linking transcriptional dysregulation to RP-like degeneration.

    Evidence Retina-specific Gm20541 knockout with CUT&Tag, ChIP-exo, RNA-seq, and ERG

    PMID:41708596

    Open questions at the time
    • Direct MSX2 binding at the Pde6g promoter not delineated
    • Human relevance of the axis not confirmed

Open questions

Synthesis pass · forward-looking unresolved questions
  • The structural basis by which the PDE6G C-terminus simultaneously inhibits and stabilizes the catalytic core, and the function of non-retinal PDE6G, remain unresolved.
  • No atomic-resolution gamma-catalytic core structure in the corpus
  • Lung PDE6G function uncharacterized
  • Reconciliation of in vitro vs in vivo regulatory residue effects incomplete

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 4
Localization
GO:0005886 plasma membrane 1 GO:0005929 cilium 1
Pathway
R-HSA-162582 Signal Transduction 2 R-HSA-9709957 Sensory Perception 2
Partners
PDE6APDE6B
Complex memberships
rod cGMP-phosphodiesterase (PDE6) holoenzyme

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1990 Cloning of human PDE6G cDNA revealed a 261 bp coding region encoding a gamma subunit highly conserved across bovine, mouse, and human retinas; the PDEG gene was mapped to human chromosome 17q21.1; the encoded protein functions as an inhibitory gamma subunit of the rod photoreceptor cGMP-phosphodiesterase complex (alpha-beta catalytic subunits inhibited by two identical gamma subunits). cDNA cloning, sequencing, Northern blotting, somatic cell hybrid mapping Gene Medium 2161380
2001 In vivo transgenic rescue experiments showed that the carboxyl-terminal domain of PDE6G (last 7 amino acids, Del7C) is required to maintain PDE6 catalytic activity; the Del7C transgene failed to rescue photoreceptor survival in Pdeg(tm1)/Pdeg(tm1) null mice and resulted in low PDE activity and reduced PDE6alpha and PDE6beta content, demonstrating that the C-terminus of PDE6G is necessary for maintaining PDE6alpha/beta stability and activity in vivo. Transgenic mouse rescue assay, ERG, biochemical PDE activity assay, immunoblot Vision research High 11853759
2001 In vivo transgenic experiments with the Y84G (Tyr84→Gly) mutation in PDE6G showed that Tyr84 is required for full regulatory control of the PDE6 catalytic core: the mutation caused a significant defect in PDE activation by transducin (biochemical assay) but only a 10-fold reduction in ERG a-wave amplitude in vivo, revealing that in vivo regulation is more dynamic than predicted by cell-free in vitro assays. Transgenic mouse rescue assay, ERG, suction electrode recording, in vitro PDE activation assay The Biochemical journal High 11171042
2001 Sildenafil (a PDE inhibitor) caused a reversible, dose-dependent decrease in ERG a- and b-wave amplitudes in mice heterozygous for PDE6G knockout (PDEG:tm1/+) but not in wild-type mice, demonstrating that reduced PDE6G dosage sensitizes retinal function to PDE inhibition. ERG in heterozygous Pde6g knockout mice treated with sildenafil Investigative ophthalmology & visual science Medium 11157892
2002 Mouse lung was found to express rod PDE6G (Pde6g) transcripts and protein; a 14-kDa membrane protein (p14) in lung was identified as a mixture of rod (PDE6G) and cone (PDE6H) gamma subunits by immunoblot with isoform-specific antibodies; p14 immunostaining with pan-PDEgamma antibodies was substantially reduced in Pde6g-/- lung membranes, confirming PDE6G contributes to this non-retinal protein pool. RT-PCR, immunoblotting with isoform-specific antibodies, Pde6g-/- knockout comparison, subcellular fractionation (membrane fraction) Genomics Medium 11944991
2002 An alternative splicing variant of PDE6G was identified in human retina cDNA libraries in which a coding sequence exon is skipped, indicating the PDE6G locus produces at least two transcript isoforms in the retina. EST sequencing of human retina cDNA libraries, informatics cluster analysis Molecular vision Low 12107411
2003 An allelic series of Pdeg mutations in mice (Pdeg(tm), Del7C, Y84G, W70A) produces a phenotypic spectrum from stationary night blindness to progressive retinal degeneration, establishing that different structural domains of PDE6G differentially affect the activation and deactivation phases of phototransduction in vivo. Transgenic mouse allelic series, ERG, retinal morphology Frontiers in bioscience Medium 12700134
2008 In a canine PDE6A-mutant model, Western blot analysis showed that loss of PDE6A protein was accompanied by absence of PDE6B and PDE6G proteins, and no PDE6 enzymatic activity, demonstrating that PDE6A expression is essential for the normal expression and stability of the other PDE6 subunits including PDE6G. Western blot, PDE6 enzymatic activity assay in PDE6A mutant dog retinas Investigative ophthalmology & visual science Medium 18775863
2010 A homozygous splice-site mutation (c.187+1G>T) in PDE6G causes autosomal recessive early-onset retinitis pigmentosa in humans; in vitro splicing assay demonstrated the mutation leads to incorrect splicing; this established a positive (non-inhibitory) role of the PDE6G gamma subunit in maintaining phosphodiesterase activity in vivo. Homozygosity mapping, Sanger sequencing, in vitro splicing assay, ERG, funduscopy, OCT American journal of human genetics High 20655036
2011 ILE86TER transgenic mice expressing a PDE6G lacking the two C-terminal Ile86 and Ile87 residues showed decreased sensitivity and rate of activation, a decreased rate of decay of the photoresponse (consistent with reduced inhibition of PDE6alpha/beta), and higher spontaneous PDE6 activation in darkness; IBMX perfusion increased circulating current in ILE86TER rods lacking GCAPs (but not in WT), confirming higher basal PDE6 activity; this established that Ile86 and Ile87 are necessary for normal inhibitory control of PDE6 catalytic activity in vivo. Transgenic mouse rescue, suction electrode recording, ERG, IBMX pharmacological probe, Pde6g(tm1)/Pde6g(tm1) null background Cellular signalling High 21920434
2011 The N74A mutation in PDE6G, which reduces inhibition of PDE6alpha/beta in vitro, did not produce a decrease in circulating current, sensitivity, or altered response kinetics in transgenic mice expressing only N74A-PDE6G, and purified PDE6 from these mice showed no increase in basal activity; demonstrating that Asn74 is not required for normal in vivo regulation of PDE6 catalytic activity, in contrast to in vitro predictions. Transgenic mouse rescue, suction electrode ERG recording, in vitro PDE activity assay of purified enzyme Cellular signalling Medium 21616145
2012 Mice carrying a rod-specific Pde6g mutation showed significantly reduced vigabatrin-induced retinal toxicity compared to wild-type, demonstrating that PDE6G-mediated rod phototransduction signaling contributes to the mechanism of vigabatrin retinal toxicity. Genetic mouse model (Pde6g mutant) with vigabatrin treatment, retinal toxicity assessment PloS one Medium 22970106
2015 In Pde6h-/- (cone PDEgamma subunit knockout) mice, rod PDE6G was detected in cone photoreceptors by immunohistochemistry, indicating that PDE6G can functionally substitute for PDE6H in cones when the latter is absent; this substitution was associated with preservation of visual function in mice (in contrast to human PDE6H-null patients). Immunohistochemistry, ERG, retinal morphology in Pde6h knockout mice The Journal of biological chemistry Medium 25739440
2018 Pde6g-CreERT2-mediated conditional knockout of ARL13B in adult rod photoreceptors after outer segment maturation led to mislocalization of prenylated PDE6 (as well as rhodopsin and IFT88) and subsequent loss of photoresponse, demonstrating that ARL13B is required for proper PDE6 trafficking and maintenance in mature rod outer segments. Pde6g-CreERT2 inducible conditional knockout, immunofluorescence, ERG, retinal sectioning The Journal of neuroscience Medium 30573647
2023 Detailed characterization of Pde6g-/- mice showed early-onset rapid rod degeneration (majority gone by postnatal day 16), followed by retinal remodeling including inner retinal neuron changes, glial activation, retinal vascular degradation, and RPE structural abnormalities, establishing a precise timeline of RP disease progression caused by PDE6G deficiency. Immunofluorescence, immunoblot, retinal flat-mount morphometry, trypsin-digest acellular capillary assay, ERG in Pde6g-/- mice Ophthalmology science Medium 37363133
2024 ZNF124 (via its murine homolog Gm20541) was shown by CUT&Tag and RNA-seq to regulate Msx2 transcription, which in turn controls the expression of Pde6g in the retina; deletion of Gm20541 led to reduced Pde6g expression and RP-like photoreceptor degeneration, placing PDE6G downstream of a ZNF124-MSX2 transcriptional axis. Retina-specific Gm20541 knockout mouse, CUT&Tag, ChIP-exo, RNA-seq, ERG Cell death & disease Medium 41708596

Source papers

Stage 0 corpus · 53 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2010 Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase. American journal of human genetics 69 20655036
2018 Genome-wide association study of milk fatty acid composition in Italian Simmental and Italian Holstein cows using single nucleotide polymorphism arrays. Journal of dairy science 62 30243637
2002 Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts. Molecular vision 53 12107411
2008 Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation. Investigative ophthalmology & visual science 49 18775863
2016 Evolution and expression of the phosphodiesterase 6 genes unveils vertebrate novelty to control photosensitivity. BMC evolutionary biology 45 27296292
2018 ARL13B, a Joubert Syndrome-Associated Protein, Is Critical for Retinogenesis and Elaboration of Mouse Photoreceptor Outer Segments. The Journal of neuroscience : the official journal of the Society for Neuroscience 44 30573647
2001 Sildenafil-mediated reduction in retinal function in heterozygous mice lacking the gamma-subunit of phosphodiesterase. Investigative ophthalmology & visual science 40 11157892
2011 Putative essential and core-essential genes in Mycoplasma genomes. Scientific reports 37 22355572
2019 A commonly occurring genetic variant within the NPLOC4-TSPAN10-PDE6G gene cluster is associated with the risk of strabismus. Human genetics 35 31073882
1990 Isolation and characterization of cDNA encoding the gamma-subunit of cGMP phosphodiesterase in human retina. Gene 35 2161380
2018 Gene set enrichment analysis of SNP data in dairy and beef cattle with bovine respiratory disease. Animal genetics 30 30229962
2015 Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. The Journal of biological chemistry 27 25739440
2013 Expression of phosphodiesterase 6 (PDE6) in human breast cancer cells. SpringerPlus 25 24683528
1994 Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa. Investigative ophthalmology & visual science 23 8125719
1989 The gene for the gamma-subunit of retinal cGMP-phosphodiesterase is on mouse chromosome 11. Experimental eye research 23 2538340
2010 Phosphodiesterase 6 subunits are expressed and altered in idiopathic pulmonary fibrosis. Respiratory research 21 20979602
2012 Vigabatrin-induced retinal toxicity is partially mediated by signaling in rod and cone photoreceptors. PloS one 19 22970106
2005 A cohabitation challenge to compare the efficacies of vaccines for bacterial kidney disease (BKD) in chinook salmon Oncorhynchus tshawytscha. Diseases of aquatic organisms 17 15819430
2002 The positive role of the carboxyl terminus of the gamma subunit of retinal cGMP-phosphodiesterase in maintaining phosphodiesterase activity in vivo. Vision research 17 11853759
1997 Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes. Human genetics 17 9385361
2001 In vivo studies of the gamma subunit of retinal cGMP-phophodiesterase with a substitution of tyrosine-84. The Biochemical journal 14 11171042
2021 Differential expression analysis using a model-based gene clustering algorithm for RNA-seq data. BMC bioinformatics 13 34670485
2021 lncRNA MALAT1 promotes diabetic retinopathy by upregulating PDE6G via miR-378a-3p. Archives of physiology and biochemistry 13 34674599
2002 The identification of the inhibitory gamma-subunits of the type 6 retinal cyclic guanosine monophosphate phosphodiesterase in non-retinal tissues: differential processing of mRNA transcripts. Genomics 13 11944991
2003 Stationary night blindness or progressive retinal degeneration in mice carrying different alleles of PDE gamma. Frontiers in bioscience : a journal and virtual library 11 12700134
2018 Lateralized expression of left-right axis formation genes is shared by adult brains of lefty and righty scale-eating cichlids. Comparative biochemistry and physiology. Part D, Genomics & proteomics 10 30007273
1999 Evaluation of cGMP-phosphodiesterase (PDE) subunits for causal association with rod-cone dysplasia 2 (rcd2), a canine model of abnormal retinal cGMP metabolism. Experimental eye research 10 10504278
1992 Syntenic assignments of visual transduction genes in cattle. Genomics 10 1330890
2024 Deciphering Müller cell heterogeneity signatures in diabetic retinopathy across species: an integrative single-cell analysis. European journal of medical research 9 38698486
2016 Transcriptomic responses in the oral cavity of F344 rats and B6C3F1 mice following exposure to Cr(VI): Implications for risk assessment. Environmental and molecular mutagenesis 9 27859739
2015 The Biosynthesis of UDP-D-QuiNAc in Bacillus cereus ATCC 14579. PloS one 9 26207987
2011 Effect of the ILE86TER mutation in the γ subunit of cGMP phosphodiesterase (PDE6) on rod photoreceptor signaling. Cellular signalling 8 21920434
2023 A New Preclinical Model of Retinitis Pigmentosa Due to Pde6g Deficiency. Ophthalmology science 7 37363133
2022 A Cross-Tissue Transcriptome-Wide Association Study Identifies Novel Susceptibility Genes for Juvenile Idiopathic Arthritis in Asia and Europe. Frontiers in immunology 7 35967305
2007 Association of the Asn306Ser variant of the SP4 transcription factor and an intronic variant in the beta-subunit of transducin with digenic disease. Molecular vision 7 17356515
2024 Deficiency of the ribosomal protein uS10 (RPS20) reorganizes human cells translatome according to the abundance, CDS length and GC content of mRNAs. Open biology 6 38290548
2011 Function of the asparagine 74 residue of the inhibitory γ-subunit of retinal rod cGMP-phophodiesterase (PDE) in vivo. Cellular signalling 5 21616145
2003 Analysis of PDE6D and PDE6G genes for generalised progressive retinal atrophy (gPRA) mutations in dogs. Genetics, selection, evolution : GSE 5 12927076
2025 Orthogonal RNA-regulated destabilization domains for three-color RNA imaging with minimal RNA perturbation. Nature methods 4 41407926
2024 Paternal-effect-genes revealed through sperm cryopreservation in Perca fluviatilis. Scientific reports 4 38493223
2023 Transcriptome-wide association study identifies new susceptibility genes for degenerative cervical spondylosis. Bone & joint research 4 36660900
2016 Biosynthesis of three N-acetylaminosugar-conjugated flavonoids using engineered Escherichia coli. Microbial cell factories 4 27776529
2002 Autosomal dominant retinal dystrophy (Rdy) in Abyssinian cats: exclusion of PDE6G and ROM1 and likely exclusion of Rhodopsin as candidate genes. Animal genetics 4 12464018
2022 Integrative RNA-seq and ATAC-seq analyses of phosphodiesterase 6 mutation-induced retinitis pigmentosa. International ophthalmology 3 35147831
2023 Identification of hub genes correlated with diabetic retinopathy via bioinformatics methods. European review for medical and pharmacological sciences 2 37318461
2024 Analysis of PDE6G mutations in a patient with retinitis pigmentosa. BMC ophthalmology 1 39160471
2023 Transcriptome-wide association study identifies new susceptibility genes and pathways for spondyloarthritis. Journal of orthopaedic surgery and research 1 37667381
2013 Selection of Phototransduction Genes in Homo sapiens. Investigative ophthalmology & visual science 1 23868983
2026 Unveiling ZNF124 as a novel determinant in neurodegeneration: orchestration of photoreceptor homeostasis through MSX2 transcriptional regulation. Cell death & disease 0 41708596
2026 Post-thaw storage of sperm as a tool towards revealing paternal-effect-associated genes in Eurasian perch, Perca fluviatilis. BMC genomics 0 41721232
2025 Retinitis Pigmentosa (Non-syndromic). Advances in experimental medicine and biology 0 40736827
2024 Cross-species single-cell landscapes identify the pathogenic gene characteristics of inherited retinal diseases. Frontiers in genetics 0 39055259
2024 Analysis of candidate variants in a Chinese family with monozygotic twins with keratoconus: a case report. Ophthalmic genetics 0 39544142

Missed literature

Know a paper Affinage missed for PDE6G? Flag it for the maintainers and the community.

No submissions yet.