Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.Q2931_S2932delFs
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EYS

NM_001142800.2:p.Q2931_S2932delFs

Associated Papers

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

Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing.

Kocaaga A et al.

Revista Da Associacao Medica Brasileira (1992), 2023

Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing.

Duzkale N et al.

Ophthalmic Genetics, 2021

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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."