Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.P105delFs
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PKP2

NM_001005242.3:p.P105delFs

Associated Papers

Postmortem Genetic Testing in Sudden Unexpected Death: A Narrative Review.

Alzahrani SA et al.

Cureus, 2023

Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction.

Leone MP et al.

Frontiers in Cardiovascular Medicine, 2021

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
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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."