Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.A344_G345Splc
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KCNQ1

NM_000218.3:p.A344_G345Splc

Associated Papers

To Modify or Not to Modify: Allele-Specific Effects of 3'UTR-KCNQ1 Single Nucleotide Polymorphisms on Clinical Phenotype in a Long QT 1 Founder Population Segregating a Dominant-Negative Mutation.

Winbo A et al.

Journal of the American Heart Association, 2022

Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Song Y et al.

Frontiers in Cardiovascular Medicine, 2022

The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.

Huttunen H et al.

Frontiers in Endocrinology, 2018

Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.

Leong IUS et al.

Medical Sciences (basel, Switzerland), 2017

29099038 (PubMed )
Supplement: medsci-05-00022-s001.zip › Supplementary_data_1.pdf

Low extracellular potassium prolongs repolarization and evokes early afterdepolarization in human induced pluripotent stem cell-derived cardiomyocytes.

Kuusela J et al.

Biology Open, 2017

Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?

Crotti L et al.

Circulation. Cardiovascular Genetics, 2016

Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population.

Lahtinen AM et al.

Annals of Medicine, 2013

A presumably benign human ether-a-go-go-related gene mutation (R176W) with a malignant primary manifestation of long QT syndrome.

Donner BC et al.

Cardiology in the Young, 2012

Cloninger's temperament traits and inherited long QT syndrome.

Määttänen I et al.

Journal of Psychosomatic Research, 2011

KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome?

Lahtinen AM et al.

Bmc Medical Genetics, 2011

Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.

Hofman N et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2011

LQTS gene LOVD database.

Zhang T et al.

Human Mutation, 2010

High prevalence of four long QT syndrome founder mutations in the Finnish population.

Marjamaa A et al.

Annals of Medicine, 2009

Long QT and Brugada syndrome gene mutations in New Zealand.

Chung SK et al.

Heart Rhythm, 2007

Beta1-adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndrome.

Paavonen KJ et al.

International Journal of Cardiology, 2007

Further evidence of inherited long QT syndrome gene mutations in antiarrhythmic drug-associated torsades de pointes.

Lehtonen A et al.

Heart Rhythm, 2007

Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients.

Fodstad H et al.

Annals of Medicine, 2006

Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.

Fodstad H et al.

Annals of Medicine, 2004

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