Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.E544K
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KCNH2

NM_000238.4:p.E544K

Associated Papers

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F et al.

Neuroscience Bulletin, 2017

A plethora of mechanisms in the HERG-related long QT syndrome. Genetics meets electrophysiology.

Roden DM et al.

Cardiovascular Research, 1999

Mutations of the S4-S5 linker alter activation properties of HERG potassium channels expressed in Xenopus oocytes.

Sanguinetti MC et al.

The Journal of Physiology, 1999

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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."