Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.S202S
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CAPN3

NM_000070.3:p.S202S

Associated Papers

Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.

Piluso G et al.

Journal of Medical Genetics, 2005

550delA mutation in the calpain 3 (CAPN3) gene: DMD/BMD, SMA, or LGMD2A--clinically misdiagnosed cases.

Georgieva B et al.

American Journal of Medical Genetics. Part A, 2005

Clinical variability in calpainopathy: what makes the difference?

de Paula F et al.

European Journal of Human Genetics : Ejhg, 2002

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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."