Varaico: Literature-Extracted Genetic Variants

Gene:TMEM43
Variant:p.S171Splc
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TMEM43

NM_024334.3:p.S171Splc

Associated Papers

Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry.

Roston TM et al.

Plos One, 2018

30403697 (PubMed )
Supplement: pone.0205925.s002.docx

Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.

Christensen AH et al.

Clinical Genetics, 2011

[Clinical and genetic findings in arrhythmogenic right ventricular cardiomyopathy].

Christensen AH et al.

Ugeskrift for Laeger, 2011

[Ventricular tachyarrhythmias in patients with cardiomyopathy].

Henningsen K et al.

Ugeskrift for Laeger, 2008

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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."