Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.G446S
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CAPN3

NM_000070.3:p.G446S

Associated Papers

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.

Hauerslev S et al.

Bmc Musculoskeletal Disorders, 2012

cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.

Duno M et al.

European Journal of Human Genetics : Ejhg, 2008

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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."