Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleDe novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.AuthorsScala, Marcello; Drouot, Nathalie; MacLennan, Suzanna C.; Wessels, Marja W.; Krygier, Magdalena; Pavinato, Lisa; Telegrafi, Aida; de Man, Stella A.; van Slegtenhorst, Marjon; Iacomino, Michele; Madia, Francesca; Scudieri, Paolo; Uva, Paolo; Giacomini, Thea; Nobile, Giulia; Mancardi, Maria Margherita; Balagura, Ganna; Galloni, Giovanni Battista; Verrotti, Alberto; Umair, MuhammadPublicationHuman Mutation, 2022, Vol 43, Issue 9, p1299ISSN1059-7794Publication typeArticleDOI10.1002/humu.24414