Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.F146F
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CAPN3

NM_000070.3:p.F146F

Associated Papers

Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch.

Waddell LB et al.

Journal of Neuropathology and Experimental Neurology, 2011

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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."