Varaico: Literature-Extracted Genetic Variants

Gene:PDE6A
Variant:p.E709K
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PDE6A

NM_000440.3:p.E709K

Associated Papers

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.

Abu Elasal M et al.

Genes, 2024

39062705 (PubMed )
Supplement: genes-15-00926-s001.zip › Table_S1-revision.xlsx › Tabble_S1

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table4.xlsx › Results

Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families.

Dawood M et al.

International Journal of Ophthalmology, 2021

Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.

Khateb S et al.

Jama Ophthalmology, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."