Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.A4144delFs
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USH2A

NM_206933.4:p.A4144delFs

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

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.

Mutai H et al.

Orphanet Journal of Rare Diseases, 2013

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