Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.F167S
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CAPN3

NM_000070.3:p.F167S

Associated Papers

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

Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.

Nilsson MI et al.

Plos One, 2014

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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."