De novo frameshift variants in the neuronal splicing factor NOVA2 result in a common C-terminal part and cause a severe form of neurodevelopmental disorder

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TitreDe novo frameshift variants in the neuronal splicing factor NOVA2 result in a common C-terminal part and cause a severe form of neurodevelopmental disorder
Type de publicationJournal Article
Year of Publication2020
AuteursMattioli F., Hayot G., Drouot N., Isidor B., Courraud J., Hinckelmann M., F. Mau-Them T, Sellier C., Goldman A., Telegrafi A., Boughton A., Gamble C., Moutton S., Quartier A., Jean N., Van Ness P., Grotto S., Nambot S., Douglas G., Si Y., Chelly J., Shad Z., Kaplan E., Dineen R., Golzio C., Charlet N., Mandel J., Piton A.
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume28
Pagination33-34
Date PublishedDEC
Type of ArticleMeeting Abstract
ISSN1018-4813