De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
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Hum Mutat. 2022 Sep;43(9):1299-1313. doi: 10.1002/humu.24414. Epub 2022 Jun 8.
Hum Mutat. 2022.
PMID: 35607920
Free PMC article.