Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.E43K
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KCNE1

NM_000219.6:p.E43K

Associated Papers

Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.

Vanoye CG et al.

Circulation. Genomic and Precision Medicine, 2025

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM7_ESM.xlsx › Combined

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

Dual effects of mefenamic acid on the IKs molecular complex.

Chan M et al.

British Journal of Pharmacology, 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_MOESM1_ESM.xlsx › ClinVar

Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death.

Sarquella-Brugada G et al.

Frontiers in Pediatrics, 2021

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