Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.K420insFs
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KCNQ1

NM_000218.3:p.K420insFs

Associated Papers

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2

Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1.

Akgun-Dogan O et al.

Journal of Cardiovascular Electrophysiology, 2022

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

Long QT Syndrome and Sinus Bradycardia-A Mini Review.

Wilders R et al.

Frontiers in Cardiovascular Medicine, 2018

30123799 (PubMed )
Supplement: Data_Sheet_1.PDF

[Neonatal forms of congenital long QT syndrome].

Lupoglazoff JM et al.

Archives Des Maladies Du Coeur Et Des Vaisseaux, 2004

Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.

Lupoglazoff JM et al.

Journal of the American College of Cardiology, 2004

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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."