Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G100R
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PKP2

NM_001005242.3:p.G100R

Associated Papers

Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations.

Zhang B et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.

Rigato I et al.

Circulation. Cardiovascular Genetics, 2013

Genetic diseases of junctions.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies.

Basso C et al.

European Heart Journal, 2006

Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.

Pilichou K et al.

Circulation, 2006

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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."