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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:KCNH2

Variant:p.S890C

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KCNH2

NM_000238.4:p.S890C

hg38:chr7:150948467 G>C

Associated Papers

Genetic analysis, in silico prediction, and family segregation in long QT syndrome.

Riuró H et al.

European Journal of Human Genetics : Ejhg, 2015

24667783 (PubMed )

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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."