Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.C419Y
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USH2A

NM_206933.4:p.C419Y

Associated Papers

The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.

De Geer K et al.

Acta Ophthalmologica, 2025

39643591 (PubMed )
Supplement: AOS-103-327-s002.xlsx › cohort_data

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Sheck LHN et al.

Molecular Genetics & Genomic Medicine, 2021

33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new

Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

Seyedahmadi BJ et al.

Experimental Eye Research, 2004

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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."