Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.T63P
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CAV3

NM_033337.3:p.T63P

Associated Papers

A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies.

Pradhan BS et al.

International Journal of Molecular Sciences, 2020

Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular Diseases.

Roos A et al.

Methods in Molecular Biology (clifton, N.j.), 2020

Biochemical and pathological changes result from mutated Caveolin-3 in muscle.

González Coraspe JA et al.

Skeletal Muscle, 2018

The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.

Hedley PL et al.

Circulation. Cardiovascular Genetics, 2013

Caveolinopathies: from the biology of caveolin-3 to human diseases.

Gazzerro E et al.

European Journal of Human Genetics : Ejhg, 2010

Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.

Catteruccia M et al.

Neuromuscular Disorders : Nmd, 2009

Two novel CAV3 gene mutations in Japanese families.

Sugie K et al.

Neuromuscular Disorders : Nmd, 2004

Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

Kubisch C et al.

Annals of Neurology, 2003

Consequences of a novel caveolin-3 mutation in a large German family.

Fischer D et al.

Annals of Neurology, 2003

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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."