Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.G221V
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CAPN3

NM_000070.3:p.G221V

Associated Papers

Novel CAPN3 variant associated with an autosomal dominant calpainopathy.

Cerino M et al.

Neuropathology and Applied Neurobiology, 2020

MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B.

Aguennouz M et al.

Cell Biochemistry and Function, 2016

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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."