Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.A150fs
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KCNQ1

NM_000218.3:p.A150fs

Associated Papers

Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Wang M et al.

Frontiers in Cardiovascular Medicine, 2022

36277779 (PubMed )
Supplement: Data_Sheet_1.pdf

β-blockers protect against dispersion of repolarization during exercise in congenital long-QT syndrome type 1.

Gemma LW et al.

Journal of Cardiovascular Electrophysiology, 2011

Ion channel mechanisms related to sudden cardiac death in phenotype-negative long-QT syndrome genotype-phenotype correlations of the KCNQ1(S349W) mutation.

Horr S et al.

Journal of Cardiovascular Electrophysiology, 2011

A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.

Ohno S et al.

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

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Moss AJ et al.

Circulation, 2007

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I et al.

Circulation, 2000

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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."