Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.E1020A
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DSG2

NM_001943.5:p.E1020A

Associated Papers

The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: endorsed by the World Heart Federation.

Arbustini E et al.

Journal of the American College of Cardiology, 2013

The MOGE(S) Classification for a Phenotype-Genotype Nomenclature of Cardiomyopathy: Endorsed by the World Heart Federation.

Arbustini E et al.

Global Heart, 2013

Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.

Rasmussen TB et al.

Human Mutation, 2013

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