Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.H4164delFs
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USH2A

NM_206933.4:p.H4164delFs

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

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

McGee TL et al.

Journal of Medical Genetics, 2010

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