De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

"all variants were submitted to the leiden open variation database (lovd https://www lovd nl ) with the following accession numbers: #0000797459 #0000797460 #0000797461 #0000797462 #0000797463 #0000797464 and #0000841619.; data availability statement all variants were submitted to the leiden open variation database (lovd https://www lovd nl ) with the following accession numbers: #0000797459 #0000797460 #0000797461 #0000797462 #0000797463 #0000797464 and #0000841619."

"CONFLICT OF INTEREST The authors declare no conflict of interest."

"The authors thank the patients and their families for their participation in this study. This study received funding specifically appointed to Department of Medical Sciences from the Italian Ministry for Education, University and Research (Ministero dell'Istruzione, dell'Università e della Ricerca‐MIUR) under the programme “Dipartimenti di Eccellenza 2018–4232022” Project code D15D1800041000. WES was supported by the NIMH (MH111661). Open Access Funding provided by Universita degli Studi di Genova within the CRUI‐CARE Agreement."