Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.L48P
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KCNE1

NM_000219.6:p.L48P

Associated Papers

Prenatal presentation of fetal bradycardia and long QT syndrome.

Chivers S et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2026

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 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
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