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[PubMed: 36883831] Garvey WT, Blcher M, Osorto Contreras CK, et al

HSS Journal , 2025

Angelman Syndrome: Ube3a Loss of expression of the ubiquitin-protein ligase E3a (UBE3A) is associated with most cases of Angelman syndrome, which is a rare syndrome of developmental delay, ID and ASD (Buiting et al., 2018), which points to a highly regulated role of UBE3A in the organism