Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.D452Splc
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CAPN3

NM_000070.3:p.D452Splc

Associated Papers

The spectrum of hereditary neuromuscular disorders in the Pakistani population.

Akbar F et al.

American Journal of Medical Genetics. Part A, 2023

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

Screening of the CAPN3 gene in patients with possible LGMD2A.

Krahn M et al.

Clinical Genetics, 2006

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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."