Varaico: Literature-Extracted Genetic Variants

Gene:KCNH2
Variant:p.A429delFs
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KCNH2

NM_000238.4:p.A429delFs

Associated Papers

Effect of moderate potassium-elevating treatment in long QT syndrome: the TriQarr Potassium Study.

Marstrand P et al.

Open Heart, 2021

34531279 (PubMed )
Supplement: openhrt-2021-001670supp001.pdf

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

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

Christiansen M et al.

Bmc Medical Genetics, 2014

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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."