Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.S307fs
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USH2A

NM_206933.4:p.S307fs

Associated Papers

A novel statistical method for interpreting the pathogenicity of rare variants.

Wang J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S8_USH2A_variants

Next-generation genetic testing for retinitis pigmentosa.

Neveling K et al.

Human Mutation, 2012

Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population.

Nishiguchi KM et al.

Plos One, 2012

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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."