Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.R100Q
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PDE6A

NM_000440.3:p.R100Q

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS09_het

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa.

Ullah I et al.

Human Genome Variation, 2016

27917291 (PubMed )
Supplement: hgv201636-s1.pdf
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