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De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

Authors: Toshinobu Matsuura, James S. Sutcliffe, Ping Fang, Robert‐Jan H. Galjaard, Yong‐hui Jiang, Claudia S. Benton, Johanna M. Rommens, Arthur L. Beaudet - Nature Genetics 1997 cited by 875

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome | Litlas