Title: Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.
Authors: Boulin T, Itani O, El Mouridi S, Leclercq-Blondel A, Gendrel M, Macnamara E, Soldatos A, Murphy JL, Gorman MP, Lindsey A, Shimada S, Turner D, Silverman GA, Baldridge D, Malicdan MC, Schedl T, Pak SC
Journal: Mol Genet Metab
Published: 2021-08-09