Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.A344G
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KCNQ1

NM_000218.3:p.A344G

Associated Papers

Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.

Harvey ML et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41445606 (PubMed )
Supplement: media-2.xlsx › File_S1

Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.

Burns C et al.

Journal of Arrhythmia, 2016

27920829 (PubMed )
Supplement: mmc2.docx

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Tester DJ et al.

Heart Rhythm, 2005

Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.

Choi G et al.

Circulation, 2004

High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.

Larsen LA et al.

Human Mutation, 1999

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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."