Varaico: Literature-Extracted Genetic Variants

Gene:CAPN2
Variant:p.R628Q
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CAPN2

NM_001748.5:p.R628Q

Associated Papers

The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.

Pittman M et al.

Genome Research, 2026

41386981 (PubMed )
Supplement: Supplemental_Tables.xlsx › S9

Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.

Garnham CP et al.

Biochemistry, 2009

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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."