Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G5D
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PKP2

NM_001005242.3:p.G5D

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

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

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.

Martinez-Barrios E et al.

International Journal of Legal Medicine, 2023

36693943 (PubMed )
Supplement: 414_2023_2951_MOESM1_ESM.pdf

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

Post-mortem genetic analysis in juvenile cases of sudden cardiac death.

Campuzano O et al.

Forensic Science International, 2014

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