Varaico: Literature-Extracted Genetic Variants

Gene:KCNE2
Variant:p.R27H
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KCNE2

NM_172201.2:p.R27H

Associated Papers

Genetics of Exertional Heat Illness: Revealing New Associations and Expanding Heterogeneity.

Sambuughin N et al.

International Journal of Molecular Sciences, 2024

39457051 (PubMed )
Supplement: ijms-25-11269-s001.zip › Supplemental_Tables_S1-S3.xlsx › Table_S3

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2019

30847666 (PubMed )
Supplement: 12471_2019_1250_MOESM2_ESM.xlsx › Blad1

Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?

Roberts JD et al.

Circulation. Arrhythmia and Electrophysiology, 2017

Arrhythmogenic KCNE gene variants: current knowledge and future challenges.

Crump SM et al.

Frontiers in Genetics, 2014

24478792 (PubMed )
Supplement: DataSheet1.DOCX

The voltage-gated channel accessory protein KCNE2: multiple ion channel partners, multiple ways to long QT syndrome.

Eldstrom J et al.

Expert Reviews in Molecular Medicine, 2011

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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."