Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.Q2026H
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EYS

NM_001142800.2:p.Q2026H

Associated Papers

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Zampaglione E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32037395 (PubMed )
Supplement: NIHMS1572593-supplement-Supplementary_Tables.xlsx › Table_S2-solutions

NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

Ge Z et al.

Scientific Reports, 2015

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