Varaico: Literature-Extracted Genetic Variants

Gene:CAPN3
Variant:p.E508_V509Splc
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CAPN3

NM_000070.3:p.E508_V509Splc

Associated Papers

Genetic-Based Treatment Strategies for Muscular Dystrophy and Congenital Myopathies.

Findlay AR et al.

Continuum (minneapolis, Minn.), 2022

The Limb-Girdle Muscular Dystrophies.

Wicklund MP

Continuum (minneapolis, Minn.), 2019

Transcriptional and translational effects of intronic CAPN3 gene mutations.

Nascimbeni AC et al.

Human Mutation, 2010

How to tackle the diagnosis of limb-girdle muscular dystrophy 2A.

Fanin M et al.

European Journal of Human Genetics : Ejhg, 2009

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

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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."