Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.T50fs
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PKP2

NM_001005242.3:p.T50fs

Associated Papers

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Van Hout CV et al.

Nature, 2020

33087929 (PubMed )
Supplement: 41586_2020_2853_MOESM11_ESM.xlsx › Sheet1

Left Ventricular Noncompaction and Congenital Heart Disease Increases the Risk of Congestive Heart Failure.

Hirono K et al.

Journal of Clinical Medicine, 2020

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

An adolescent with possible arrhythmogenic right ventricular dysplasia and long QT syndrome: evaluation and management.

Tisma-Dupanovic S et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2013

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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."