Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.G749A
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KCNH2

NM_000238.4:p.G749A

Associated Papers

Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.

O'Neill MJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38370760 (PubMed )
Supplement: media-2.xlsx › Table_S5

Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.

Soh MS et al.

Annals of Clinical and Translational Neurology, 2021

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Bleakley LE et al.

Frontiers in Neurology, 2020

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

Bagnall RD et al.

Annals of Neurology, 2016

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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."