Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.I560T
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KCNH2

NM_000238.4:p.I560T

Associated Papers

The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature.

Boulmpou A et al.

Journal of Personalized Medicine, 2025

Interpreting the actionable clinical role of rare variants associated with short QT syndrome.

Martínez-Barrios E et al.

Human Genetics, 2024

Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome.

Zhao Z et al.

Ebiomedicine, 2024

Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.

Hancox JC et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.

Li Y et al.

Channels (austin, Tex.), 2022

Preclinical short QT syndrome models: studying the phenotype and drug-screening.

Fan X et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2022

Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

Campuzano O et al.

Journal of Clinical Medicine, 2019

Functional and pharmacological characterization of an S5 domain hERG mutation associated with short QT syndrome.

Butler A et al.

Heliyon, 2019

An Update on the Structure of hERG.

Butler A et al.

Frontiers in Pharmacology, 2019

Emerging therapeutic targets in the short QT syndrome.

Hancox JC et al.

Expert Opinion on Therapeutic Targets, 2018

Recent Advances in Short QT Syndrome.

Campuzano O et al.

Frontiers in Cardiovascular Medicine, 2018

Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.

Harrell DT et al.

International Journal of Cardiology, 2015

Congenital short QT syndrome: A review focused on electrocardiographic features.

Pérez-Riera AR et al.

Journal of Electrocardiology, 0

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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."