Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.C766fs
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USH2A

NM_206933.4:p.C766fs

Associated Papers

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Reurink J et al.

Hgg Advances, 2023

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