Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.A2899G
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EYS

NM_001292009.2:p.A2899G

Associated Papers

Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Jauregui R et al.

Scientific Reports, 2020

32098976 (PubMed )
Supplement: 41598_2020_60137_MOESM1_ESM.pdf

Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa.

Iwanami M et al.

Molecular Vision, 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."