Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.T895M
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KCNH2

NM_000238.4:p.T895M

Associated Papers

Influence of genetic mutations to atria vulnerability to atrial fibrillation: An in-silico 3D human atria study.

Belletti R et al.

Computer Methods and Programs in Biomedicine, 2024

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

Arrhythmogenic Effects of Genetic Mutations Affecting Potassium Channels in Human Atrial Fibrillation: A Simulation Study.

Belletti R et al.

Frontiers in Physiology, 2021

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

Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Ioakeimidis NS et al.

Journal of Biological Research (thessalonike, Greece), 2017

Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation.

Hayashi K et al.

Circulation. Arrhythmia and Electrophysiology, 2015

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Olfson E et al.

Plos One, 2015

26332594 (PubMed )
Supplement: pone.0135193.s002.xls › Sheet1

An informatics approach to analyzing the incidentalome.

Berg JS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013

Cardiac ion channelopathies and the sudden infant death syndrome.

Wilders R

Isrn Cardiology, 2012

Cardiac ion channel gene mutations in sudden infant death syndrome.

Otagiri T et al.

Pediatric Research, 2008

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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."