Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.T20I
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KCNE1

NM_000219.6:p.T20I

Associated Papers

Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2.

Vanoye CG et al.

Biorxiv : the Preprint Server for Biology, 2025

High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.

Muhammad A et al.

Genome Medicine, 2024

38816749 (PubMed )
Supplement: 13073_2024_1340_MOESM2_ESM.xlsx › LitReview

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.

Faridi R et al.

Human Mutation, 2019

Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Ioakeimidis NS et al.

Journal of Biological Research (thessalonike, Greece), 2017

Cardiac ion channelopathies and the sudden infant death syndrome.

Wilders R

Isrn Cardiology, 2012

An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus.

Sand PG et al.

Genes, 2010

Contribution of long-QT syndrome genetic variants in sudden infant death syndrome.

Millat G et al.

Pediatric Cardiology, 2009

Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.

Huang H et al.

Febs Letters, 2009

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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."