Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.Q142*
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CAPN3

NM_000070.3:p.Q142*

Associated Papers

FRZB and melusin, overexpressed in LGMD2A, regulate integrin β1D isoform replacement altering myoblast fusion and the integrin-signalling pathway.

Jaka O et al.

Expert Reviews in Molecular Medicine, 2017

[Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux)].

Perez F et al.

Revue Neurologique, 2010

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

Gene expression profiling in limb-girdle muscular dystrophy 2A.

Sáenz A et al.

Plos One, 2008

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."