Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G75Splc
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PKP2

NM_001005242.3:p.G75Splc

Associated Papers

Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation.

Soveizi M et al.

Annals of Human Genetics, 2017

Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.

Cuenca S et al.

The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2016

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Caminsky N et al.

F1000research, 2014

25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_4._Deleterious_Natural_Site_Variantsv3.xlsx › Supplementary_Table_4

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."