Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.R390_V391Splc
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PKP2

NM_001005242.3:p.R390_V391Splc

Associated Papers

Integrated Prenatal Genetic Evaluation of Renal Agenesis: Chromosomal Microarray Analysis, Whole Exome Sequencing, and Outcome Correlations in 203 Fetuses.

Zhang N et al.

Genes, 2026

Generation of a PKP2 heterozygous knockout pig model of arrhythmogenic cardiomyopathy.

Li HH et al.

Zoological Research, 2026

Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.

Kim Y et al.

Human Genetics, 2023

37728764 (PubMed )
Supplement: 439_2023_2592_MOESM2_ESM.xlsx › Sheet1

Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Tan M et al.

Frontiers in Genetics, 2022

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

Soveizi M et al.

Annals of Human Genetics, 2017

[The clinical analysis of plakophilin-2 gene mutation in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia].

Liu X et al.

Zhonghua Nei Ke Za Zhi, 2015

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."