Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.D772_K773delFs
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CAPN3

NM_000070.3:p.D772_K773delFs

Associated Papers

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

Incidental and secondary findings in trio exome sequencing.

Cohen C et al.

Genes & Diseases, 2024

38523675 (PubMed )
Supplement: mmc3.pdf

Genetic findings in Czech patients with limb girdle muscular dystrophy.

Zídková J et al.

Clinical Genetics, 2023

Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.

de Morrée A et al.

Plos One, 2010

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."