Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.P448delFs
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KCNQ1

NM_000218.3:p.P448delFs

Associated Papers

Family-based NGS panel testing of cardiopathies and arrhythmic syndromes.

Hrazderova H et al.

Frontiers in Genetics, 2025

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 › S10

Genetic Variants on SCN5A, KCNQ1, and KCNH2 in Patients with Ventricular Arrhythmias during Acute Myocardial Infarction in a Chinese Population.

Wang F et al.

Cardiology, 2020

Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

Neyroud N et al.

Circulation Research, 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."