Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.D1037fs
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KCNH2

NM_000238.4:p.D1037fs

Associated Papers

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

Reclassification of genetic variants in children with long QT syndrome.

Westphal DS et al.

Molecular Genetics & Genomic Medicine, 2020

32383558 (PubMed )
Supplement: MGG3-8-e1300-s001.xlsx › Supplement_Tabelle

Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndrome.

Gong Q et al.

Gene, 2014

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."