Varaico: Literature-Extracted Genetic Variants

Gene:KCNE3
Variant:p.R99H
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KCNE3

NM_005472.5:p.R99H

Associated Papers

Genetic Basis of Brugada Syndrome.

Xie X et al.

Biomedicines, 2025

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Postmortem Identification of Genetic Variations Associated with Sudden Unexpected Death in Young People.

Miura A et al.

International Heart Journal, 2024

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.

Campuzano O et al.

Human Mutation, 2019

A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.

Wang C et al.

Journal of the American Heart Association, 2017

Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.

Wu Y et al.

Forensic Sciences Research, 2017

KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.

Abbott GW

Gene, 2016

[Current status and future perspective in inherited cardiac arrhythmias].

Shimizu W

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2014

Kcne3 deletion initiates extracardiac arrhythmogenesis in mice.

Hu Z et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014

Arrhythmogenic KCNE gene variants: current knowledge and future challenges.

Crump SM et al.

Frontiers in Genetics, 2014

24478792 (PubMed )
Supplement: DataSheet1.DOCX

Arrhythmogenesis in Brugada syndrome: impact and constrains of current concepts.

Bébarová M

International Journal of Cardiology, 2013

KCNE genetics and pharmacogenomics in cardiac arrhythmias: much ado about nothing?

Abbott GW

Expert Review of Clinical Pharmacology, 2013

The genetic component of Brugada syndrome.

Nielsen MW et al.

Frontiers in Physiology, 2013

Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.

Giudicessi JR et al.

Nature Reviews. Cardiology, 2012

KCNE3 T4A as the genetic basis of Brugada-pattern electrocardiogram.

Nakajima T et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2012

Deep resequencing of the voltage-gated potassium channel subunit KCNE3 gene in chronic tinnitus.

Sand PG et al.

Behavioral and Brain Functions : Bbf, 2011

Phenotypic manifestations of mutations in genes encoding subunits of cardiac potassium channels.

Shimizu W et al.

Circulation Research, 2011

[The Brugada syndrome: rare but malicious].

Stengl M

Vnitrni Lekarstvi, 2011

Genetics of Brugada syndrome.

Campuzano O et al.

Current Opinion in Cardiology, 2010

Molecular determinants of cardiac transient outward potassium current (I(to)) expression and regulation.

Niwa N et al.

Journal of Molecular and Cellular Cardiology, 2010

The genetic basis of Brugada syndrome: a mutation update.

Hedley PL et al.

Human Mutation, 2009

Novel KCNE3 mutation reduces repolarizing potassium current and associated with long QT syndrome.

Ohno S et al.

Human Mutation, 2009

Clinical impact of genetic studies in lethal inherited cardiac arrhythmias.

Shimizu W

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

Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.

Delpón E et al.

Circulation. Arrhythmia and Electrophysiology, 2008

Brugada syndrome: update 2009.

Brugada P et al.

Hellenic Journal of Cardiology : Hjc = Hellenike Kardiologike Epitheorese, 0

Brugada syndrome.

Benito B et al.

Indian Heart Journal, 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."