Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.S479S
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CAPN3

NM_000070.3:p.S479S

Associated Papers

Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective.

Zhong H et al.

Journal of Medical Genetics, 2021

Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families.

Zheng J et al.

Experimental and Therapeutic Medicine, 2021

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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."