Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.Q393*
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PKP2

NM_001005242.3:p.Q393*

Associated Papers

Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.

Bui QM et al.

Future Cardiology, 2025

40200748 (PubMed )
Supplement: IFCA_A_2484128_SM1099.xlsx › Sheet1

Genetic Basis of Early Onset Atrial Fibrillation in Patients without Risk Factors.

Rudaka I et al.

Journal of Cardiovascular Development and Disease, 2023

Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association With Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis.

Hylind RJ et al.

Circulation. Genomic and Precision Medicine, 2022

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.

Baskin B et al.

Human Genetics, 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."