Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.R490fs
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CAPN3

NM_000070.3:p.R490fs

Associated Papers

Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1.

Banerjee S et al.

Orphanet Journal of Rare Diseases, 2024

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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."