Dominant negative effects of SCN5A missense variants
Matthew J. O’Neill, Ayesha Muhammad, Li Bian, Yuko Wada, Lynn Hall, Joseph F. Solus, Laura Short, Dan M. Roden, Andrew M. Glazer
Topics & Concepts
Missense mutationHaploinsufficiencyGeneticsFrameshift mutationBiologyHEK 293 cellsMutationGenePhenotypeGenomics and Rare DiseasesNeurogenetic and Muscular Disorders ResearchGenetic Associations and Epidemiology