Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.Q391*
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KCNH2

NM_000238.4:p.Q391*

Associated Papers

Prevalence, risk factors, and outcomes of QT prolongation in primary and RASopathy-associated hypertrophic cardiomyopathy.

Österberg AW et al.

Heart Rhythm, 2025

Primary diagnosis of atrioventricular pseudo-block in a neonate with definitive diagnosis of long QT syndrome: diagnostic considerations and therapeutic approaches.

Khorgami M et al.

International Journal of Emergency Medicine, 2025

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

A Case Report: Two Young Children with Long QT Syndrome Type-2 Diagnosed by Presymptomatic Genetic Testing.

Matsushita Y et al.

Journal of Pediatric Genetics, 2022

Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.

Shimizu W et al.

Jama Cardiology, 2019

Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.

Nagaoka I et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2008

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

Napolitano C et al.

Jama, 2005

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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."