Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.G548fs
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PKP2

NM_001005242.3:p.G548fs

Associated Papers

Clinical presentations leading to arrhythmogenic left ventricular cardiomyopathy.

Graziosi M et al.

Open Heart, 2022

35444050 (PubMed )
Supplement: openhrt-2021-001914supp001.pdf

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.

Hoorntje ET et al.

Plos One, 2018

30161220 (PubMed )
Supplement: pone.0203078.s001.xlsx › S1_Table
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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."