Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.S28S
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KCNE1

NM_000219.6:p.S28S

Associated Papers

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_MOESM3_ESM.xlsx › SpliceAI

Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.

Leong IUS et al.

Medical Sciences (basel, Switzerland), 2017

29099038 (PubMed )
Supplement: medsci-05-00022-s001.zip › Supplementary_data_1.pdf

Genetic diversity of the KCNE1 gene and susceptibility to postoperative atrial fibrillation.

Voudris KV et al.

American Heart Journal, 2014

Potassium channel gene mutations rarely cause atrial fibrillation.

Ellinor PT et al.

Bmc Medical Genetics, 2006

Single nucleotide polymorphism map of five long-QT genes.

Aydin A et al.

Journal of Molecular Medicine (berlin, Germany), 2005

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.

Jongbloed R et al.

Human Mutation, 2002

[A familial case of chronic progressive external ophthalmoplegia associated with mitochondrial disease].

Patte M et al.

Journal Francais D'ophtalmologie, 2001

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