Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.R752P
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KCNH2

NM_000238.4:p.R752P

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

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Fazelifar AF et al.

Journal of Arrhythmia, 2023

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S4

Estradiol regulates human QT-interval: acceleration of cardiac repolarization by enhanced KCNH2 membrane trafficking.

Anneken L et al.

European Heart Journal, 2016

Assessment of microvolt T-wave alternans in high-risk patients with the congenital long-QT syndrome.

Schmitt J et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2009

Noninvasive risk stratification in inherited arrhythmias.

Klingenheben T

Herzschrittmachertherapie & Elektrophysiologie, 2002

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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."