Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.Y1828_S1829delFs
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MYO7A

NM_000260.4:p.Y1828_S1829delFs

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

36785559 (PubMed )
Supplement: mmc4.pdf
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