Varaico: Literature-Extracted Genetic Variants

Gene:TMEM168
Variant:p.R539Q
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TMEM168

NM_022484.6:p.R539Q

Associated Papers

Transmembrane protein 168 mutation reduces cardiomyocyte cell surface expression of Nav1.5 through αB-crystallin intracellular dynamics.

Nguyen LKC et al.

Journal of Biochemistry, 2021

Identification of transmembrane protein 168 mutation in familial Brugada syndrome.

Shimizu A et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

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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."