Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.N2878_I2879del2
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USH2A

NM_206933.4:p.N2878_I2879del2

Associated Papers

Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss.

Huang Y et al.

Frontiers in Cell and Developmental Biology, 2023

36875754 (PubMed )
Supplement: DataSheet1.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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