Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G48_R55delFs
Back to variants list

PKP2

NM_001005242.3:p.G48_R55delFs

Associated Papers

Arrhythmogenic cardiomyopathy is under-recognized in end-stage pediatric heart failure: A 36-year single-center experience.

Tadros HJ et al.

Pediatric Transplantation, 2023

Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Yang Q et al.

Journal of the American Heart Association, 2022

Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.

Headrick AT et al.

Molecular Genetics & Genomic Medicine, 2019

30985088 (PubMed )
Supplement: MGG3-7-e593-s003.docx
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."