Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.N457K
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CAPN3

NM_000070.3:p.N457K

Associated Papers

Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency.

Krag T et al.

Human Mutation, 2025

The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies.

Becker N et al.

Acta Neuropathologica Communications, 2022

35135626 (PubMed )
Supplement: 40478_2022_1320_MOESM1_ESM.pdf
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