Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ6
Variant:p.E303K
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KCNJ6

NM_002240.5:p.E303K

Associated Papers

Inwardly rectifying potassium channels: their structure, function, and physiological roles.

Hibino H et al.

Physiological Reviews, 2010

In vivo and in vitro functional characterization of Andersen's syndrome mutations.

Bendahhou S et al.

The Journal of Physiology, 2005

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

Plaster NM et al.

Cell, 2001

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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."