Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.V3096fs
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EYS

NM_001142800.2:p.V3096fs

Associated Papers

Eyes shut homolog (EYS): Connecting molecule to disease.

Marques JP et al.

Progress in Retinal and Eye Research, 2025

Multimodal imaging in retinitis pigmentosa related to the EYS gene.

Martins EADS et al.

Arquivos Brasileiros De Oftalmologia, 2024

Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.

Einhorn Y et al.

Human Genomics, 2023

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."