Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.I1704L
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EYS

NM_001142800.2:p.I1704L

Associated Papers

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

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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."