Varaico: Literature-Extracted Genetic Variants

Gene:TMEM43
Variant:p.S171Splc
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TMEM43

NM_024334.3:p.S171Splc

Associated Papers

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.

Haywood AF et al.

European Heart Journal, 2013

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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."