Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.R299L
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PKP2

NM_001005242.3:p.R299L

Associated Papers

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples.

Coll M et al.

International Journal of Molecular Sciences, 2022

The genetic architecture of Plakophilin 2 cardiomyopathy.

Dries AM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34120153 (PubMed )
Supplement: NIHMS1717834-supplement-Supplementary_File_1-_Variant_List.xlsx › MyCode
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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."