Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.S207fs
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KCNH2

NM_000238.4:p.S207fs

Associated Papers

Same family, same mutation, different ECG.

Akbuğa K et al.

Molecular Genetics & Genomic Medicine, 2023

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

Congenital long-QT syndrome in type 1 diabetes: a unique association.

Kurnaz E et al.

The Turkish Journal of Pediatrics, 2019

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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."