Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.S2191Splc
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EYS

NM_001142800.2:p.S2191Splc

Associated Papers

Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.

Zhang L et al.

Investigative Ophthalmology & Visual Science, 2025

41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1

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

A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.

Sengillo JD et al.

American Journal of Ophthalmology, 2018

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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."