Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.V834I
Back to variants list

EYS

NM_001142800.2:p.V834I

Associated Papers

EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.

Messchaert M et al.

Human Mutation, 2018

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.

Littink KW et al.

Ophthalmology, 2010

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

Audo I et al.

Human Mutation, 2010

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."