Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.A444V
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CAPN3

NM_000070.3:p.A444V

Associated Papers

A Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a De Novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3.

Komaki S et al.

Internal Medicine (tokyo, Japan), 2024

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