Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.R56Q
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SOX2

NM_003106.4:p.R56Q

Associated Papers

Targeted activation of human ether-à-go-go-related gene channels rescues electrical instability induced by the R56Q+/- long QT syndrome variant.

Venkateshappa R et al.

Cardiovascular Research, 2023

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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."