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Nature Communications|November 24, 2021
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysisKellan P Weston, Xiaoyi Gao, Jinghan Zhao, et al.
Scientific Reports|March 18, 2025
The gain-of-function UBE3AQ588E variant causes Angelman-like neurodevelopmental phenotypes in miceKellan P Weston, Anna M Gunelson, Susan E Maloney, et al.
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