Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.R101H
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PKP2

NM_001005242.3:p.R101H

Associated Papers

The Role of Human-Induced Pluripotent Stem Cells in Studying Cardiac Channelopathies.

Begovic M et al.

International Journal of Molecular Sciences, 2024

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

The genetic architecture of Plakophilin 2 cardiomyopathy.

Dries AM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34120153 (PubMed )
Supplement: NIHMS1717834-supplement-Supplementary_File_1-_Variant_List.xlsx › MyCode

iPSC-Cardiomyocyte Models of Brugada Syndrome-Achievements, Challenges and Future Perspectives.

Nijak A et al.

International Journal of Molecular Sciences, 2021

Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.

Campuzano O et al.

Human Mutation, 2019

Ajmaline blocks INa and IKr without eliciting differences between Brugada syndrome patient and control human pluripotent stem cell-derived cardiac clusters.

Miller DC et al.

Stem Cell Research, 2017

Brugada Syndrome and PKP2: Evidences and uncertainties.

Campuzano O et al.

International Journal of Cardiology, 2016

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

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.

Allegue C et al.

Plos One, 2015

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Lopes LR et al.

Journal of Medical Genetics, 2013

23396983 (PubMed )
Supplement: jmedgenet-2012-101270-s2.pdf

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.

Fressart V et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 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."