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

BACKGROUND: KCNE1 encodes a 129-residue cardiac potassium channel (I(Ks)) subunit. KCNE1 variants are associated with long QT syndrome and atrial fibrillation. However, most variants have insufficient evidence of clinical consequences and thus limited clinical utility. RESULTS: Here, we demonstrate...

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Detalles Bibliográficos
Autores principales:	Muhammad, Ayesha, Calandranis, Maria E., Li, Bian, Yang, Tao, Blackwell, Daniel J., Harvey, M. Lorena, Smith, Jeremy E., Chew, Ashli E., Capra, John A., Matreyek, Kenneth A., Fowler, Douglas M., Roden, Dan M., Glazer, Andrew M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10168370/ https://www.ncbi.nlm.nih.gov/pubmed/37162834 http://dx.doi.org/10.1101/2023.04.28.538612

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