Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.V332E
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USH2A

NM_206933.4:p.V332E

Associated Papers

Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report.

Young SL et al.

Bmc Ophthalmology, 2022

35346118 (PubMed )
Supplement: 12886_2022_2353_MOESM3_ESM.xlsx › gnomAD_with_predictors
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