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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease angelman syndrome
Comorbidity C0025362|mental retardation
Sentences 1
PubMedID- 20559465 Ube3a, an e3 ubiquitin ligase, is absent in the neurodevelopmental disorder, angelman's syndrome, leading to mental retardation early in life (kishino et al., 1997).

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