Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis

Kellan P. Weston, Xiaoyi Gao, Jinghan Zhao, Kwang Soo Kim, Susan E. Maloney, Jill Gotoff, Sumit Parikh, Yen Chen Leu, Kuen Phon Wu, Marwan Shinawi, Joshua P. Steimel, Joseph S. Harrison, Jason J. Yi

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Biochemistry, Genetics and Molecular Biology