Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.S633*
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USH2A

NM_206933.4:p.S633*

Associated Papers

Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.

García-Bohórquez B et al.

Molecular Therapy. Nucleic Acids, 2024

39629117 (PubMed )
Supplement: mmc1.pdf

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
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