Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.F275del1
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KCNQ1

NM_000218.3:p.F275del1

Associated Papers

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S4

Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.

Lin Y et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020

Electrocardiographic Screening in the First Days of Life for Diagnosing Long QT Syndrome: Findings from a Birth Cohort Study in Germany.

Simma A et al.

Neonatology, 2020

Role of HCN4 channel in preventing ventricular arrhythmia.

Ueda K et al.

Journal of Human Genetics, 2009

A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome.

Aizawa Y et al.

Journal of Cardiovascular Electrophysiology, 2007

Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

Vyas B et al.

Indian Pacing and Electrophysiology 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."