Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.D753fs
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CAPN3

NM_000070.3:p.D753fs

Associated Papers

Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.

Mianesaz H et al.

Molecular Genetics & Genomic Medicine, 2023

Molecular genetic study of Calpainopathy in Iran.

Mojbafan M et al.

Gene, 2018

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

Piluso G et al.

Journal of Medical Genetics, 2005

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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."