Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.V307delFs
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KCNQ1

NM_000218.3:p.V307delFs

Associated Papers

Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory.

Stava TT et al.

Clinical Genetics, 2024

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

QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.

Seethala S et al.

Journal of the American Heart Association, 2015

Abnormal electroencephalograms in patients with long QT syndrome.

Haugaa KH et al.

Heart Rhythm, 2013

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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."