Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.K211Splc
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CAPN3

NM_000070.3:p.K211Splc

Associated Papers

Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families.

Zheng J et al.

Experimental and Therapeutic Medicine, 2021

Natural history of LGMD2A for delineating outcome measures in clinical trials.

Richard I et al.

Annals of Clinical and Translational Neurology, 2016

Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.

Blázquez L et al.

Neurogenetics, 2008

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

Sáenz A et al.

Brain : a Journal of Neurology, 2005

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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."