rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha isoform - Protein

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Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa. [Invest Ophthalmol Vis Sci. 2022]
Central Visual Function and Genotype-Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa.
Kuehlewein L, Straßer T, Blumenstock G, Stingl K, Fischer MD, Wilhelm B, Zrenner E, Wissinger B, Kohl S, Weisschuh N, et al. Invest Ophthalmol Vis Sci. 2022 May 2; 63(5):9.
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial. [JAMA Ophthalmol. 2020]
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, et al. JAMA Ophthalmol. 2020 Dec 1; 138(12):1241-1250.
Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family. [Ophthalmic Genet. 2018]
Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family.
Zhang S, Li J, Li S, Yang Y, Yang M, Yang Z, Zhu X, Zhang L. Ophthalmic Genet. 2018 Aug; 39(4):487-491. Epub 2018 Apr 25.

RefSeq genomic sequence
See the genomic reference sequence for the PDE6A gene (NG_009102.1).
RefSeq mRNA
See reference mRNA sequence for the PDE6A gene (NM_000440.3).
RefSeq protein isoforms
See 10 reference sequence protein isoforms for the PDE6A gene.

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NP_000431 [Domain Mapping of Disease Mut...]
NP_000431
Domain Mapping of Disease Mutations
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Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
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OncoMX cancer biomarker resource
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reagents
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Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
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