Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.T2810I
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EYS

NM_001142800.2:p.T2810I

Associated Papers

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C et al.

Scientific Reports, 2019

30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.

Abd El-Aziz MM et al.

Investigative Ophthalmology & Visual Science, 2010

EYS is a major gene for rod-cone dystrophies in France.

Audo I et al.

Human Mutation, 2010

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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."