Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.F731S
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CAPN3

NM_000070.3:p.F731S

Associated Papers

Oligomer-dependent and -independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3.

Hisatsune C et al.

The Journal of Biological Chemistry, 2026

Calpainopathy-a survey of mutations and polymorphisms.

Richard I et al.

American Journal of Human Genetics, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."