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UBE3A/E6-AP mutations cause Angelman syndrome.
Nat Genet. 1997 Jan;15(1):70-3. doi: 10.1038/ng0197-70.
Nat Genet. 1997.
PMID: 8988171
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.
Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL.
Matsuura T, et al.
Nat Genet. 1997 Jan;15(1):74-7. doi: 10.1038/ng0197-74.
Nat Genet. 1997.
PMID: 8988172
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