Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.D1682Y
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EYS

NM_001142800.2:p.D1682Y

Associated Papers

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.

Fadaie Z et al.

Npj Genomic Medicine, 2021

Copy-number variations in EYS: a significant event in the appearance of arRP.

Pieras JI et al.

Investigative Ophthalmology & Visual Science, 2011

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."