Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.H422delFs
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KCNQ1

NM_181798.2:p.H422delFs

Associated Papers

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.

Mazzaccara C et al.

Biomolecules, 2022

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Stattin EL et al.

Bmc Cardiovascular Disorders, 2012

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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."