Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.L2938M
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EYS

NM_001142800.2:p.L2938M

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: Table9.xlsx › Blad1

Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.

Koyanagi Y et al.

Investigative Ophthalmology & Visual Science, 2020

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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."