Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.A497V
Back to variants list

CAPN3

NM_000070.3:p.A497V

Associated Papers

Variants in CAPN3 Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy Combined With Calpain-3 Deficiency.

Krag T et al.

Human Mutation, 2025

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."