Varaico: Literature-Extracted Genetic Variants

Gene:CAPN1
Variant:p.R57C
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CAPN1

NM_005186.4:p.R57C

Associated Papers

Epistasis between calpain 1 and its inhibitor calpastatin within breeds of cattle.

Barendse W et al.

Genetics, 2007

Plasma transfusion combined with chelating therapy alleviates fulminant Wilson's disease with a single Arg778Leu heterozygote mutation.

Liu L et al.

Annals of Hepatology, 0

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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."