Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.C2139R
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EYS

NM_001142800.2:p.C2139R

Associated Papers

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Colombo L et al.

Investigative Ophthalmology & Visual Science, 2021

33576794 (PubMed )
Supplement: iovs-62-2-13_s001.xlsx › Table_S4_AR

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

Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.

Pierrottet CO et al.

Genetics and Molecular Research : Gmr, 2014

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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."