Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.F58V
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DSC2

NM_024422.6:p.F58V

Associated Papers

Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing.

Pohl GM et al.

Frontiers in Cardiovascular Medicine, 2023

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

Lopes LR et al.

Heart (british Cardiac Society), 2015

25351510 (PubMed )
Supplement: heartjnl-2014-306387-s2.pdf

Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.

Elliott P et al.

Circulation. Cardiovascular Genetics, 2010

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