Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.K770delFs
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USH2A

NM_206933.4:p.K770delFs

Associated Papers

Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.

Valenzano R et al.

International Journal of Molecular Sciences, 2026

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

A Novel Frameshift Mutation of the USH2A Gene in a Korean Patient with Usher Syndrome Type II.

Boo SH et al.

Clinical and Experimental Otorhinolaryngology, 2013

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