Varaico: Literature-Extracted Genetic Variants

Gene:CAV3
Variant:p.T78K
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CAV3

NM_033337.3:p.T78K

Associated Papers

Caveolin-3 and Caveolin-1 Interaction Decreases Channel Dysfunction Due to Caveolin-3 Mutations.

Benzoni P et al.

International Journal of Molecular Sciences, 2024

Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.

Berling E et al.

European Journal of Neurology, 2023

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

Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Son MJ et al.

Journal of Korean Medical Science, 2018

Generation of human induced pluripotent stem cells (EURACi001-A, EURACi002-A, EURACi003-A) from peripheral blood mononuclear cells of three patients carrying mutations in the CAV3 gene.

Meraviglia V et al.

Stem Cell Research, 2018

Identification and functional analysis of a new putative caveolin-3 variant found in a patient with sudden unexplained death.

Lariccia V et al.

Journal of Biomedical Science, 2014

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

Genetic spectrum of cardiomyopathies with neuromuscular phenotype.

Kostareva A et al.

Frontiers in Bioscience (scholar Edition), 2013

Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Harkcom WT et al.

Expert Review of Cardiovascular Therapy, 2010

Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling.

Brauers E et al.

The American Journal of Pathology, 2010

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

Gazzerro E et al.

European Journal of Human Genetics : Ejhg, 2010

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.

Traverso M et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2008

[Analysis of DNA polymorphisms of the apolipoprotein genes apoB and apoC3 in myocardial infarct patients].

Shevtsov SP et al.

Molekuliarnaia Genetika, Mikrobiologiia I Virusologiia, 0

8065384 (PubMed )
Supplement: cvw135.pdf
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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."