Protein structure aids predicting functional perturbation of missense variants in SCN5A and KCNQ1

Rare variants in the cardiac potassium channel K(V)7.1 (KCNQ1) and sodium channel Na(V)1.5 (SCN5A) are implicated in genetic disorders of heart rhythm, including congenital long QT and Brugada syndromes (LQTS, BrS), but also occur in reference populations. We previously reported two sets of Na(V)1.5...

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Detalles Bibliográficos
Autores principales: Kroncke, Brett M., Mendenhall, Jeffrey, Smith, Derek K., Sanders, Charles R., Capra, John A., George, Alfred L., Blume, Jeffrey D., Meiler, Jens, Roden, Dan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Research Network of Computational and Structural Biotechnology 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383132/
https://www.ncbi.nlm.nih.gov/pubmed/30828412
http://dx.doi.org/10.1016/j.csbj.2019.01.008

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