Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.
Hum Mol Genet. 2021 Apr 30;30(6):430-442. doi: 10.1093/hmg/ddab050.
Hum Mol Genet. 2021.
PMID: 33607653
Free PMC article.