Varaico: Literature-Extracted Genetic Variants

Gene:CAPN1
Variant:p.P319L
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CAPN1

NM_005186.4:p.P319L

Associated Papers

Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A.

Sorimachi H et al.

Advances in Experimental Medicine and Biology, 2000

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."