Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.H73Y
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KCNE1

NM_000219.6:p.H73Y

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_MOESM1_ESM.xlsx › ClinVar

Long-QT mutations in KCNE1 modulate the 17β-estradiol response of Kv7.1/KCNE1.

Erlandsdotter LM et al.

Science Advances, 2023

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

Faridi R et al.

Human Mutation, 2019

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