Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G460S
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PKP2

NM_001005242.3:p.G460S

Associated Papers

Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Campuzano O et al.

Ebiomedicine, 2020

Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.

van Lint FHM et al.

Circulation. Genomic and Precision Medicine, 2019

31386562 (PubMed )
Supplement: circgenetics_circcvg-2019-002467_supp1.pdf

Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Groeneweg JA et al.

Heart Rhythm, 2014

Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy.

Alcalde M et al.

Plos One, 2014

Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers.

Groeneweg JA et al.

The American Journal of Cardiology, 2013

Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin.

La Gerche A et al.

Heart (british Cardiac Society), 2010

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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."