Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.C813*
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EYS

NM_001142800.2:p.C813*

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

A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa.

Dai C et al.

Genetic Testing and Molecular Biomarkers, 2023

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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."