Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A6
Variant:p.K244_V245Splc
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SLC6A6

NM_003043.6:p.K244_V245Splc

Associated Papers

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.

Merner ND et al.

American Journal of Human Genetics, 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."