Varaico: Literature-Extracted Genetic Variants

Gene:CAPN1
Variant:p.E226K
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CAPN1

NM_005186.4:p.E226K

Associated Papers

Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain.

Jia Z et al.

Biophysical Journal, 2001

Calpainopathy-a survey of mutations and polymorphisms.

Richard I et al.

American Journal of Human Genetics, 1999

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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."