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

por Weston, Kellan P., Gao, Xiaoyi, Zhao, Jinghan, Kim, Kwang-Soo, Maloney, Susan E., Gotoff, Jill, Parikh, Sumit, Leu, Yen-Chen, Wu, Kuen-Phon, Shinawi, Marwan, Steimel, Joshua P., Harrison, Joseph S., Yi, Jason J.
Publicado 2021