Associated Papers
An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.
Du X et al.
Genes, 2022
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.
Weston KP et al.
Nature Communications, 2021
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.
Avagliano Trezza R et al.
Nature Neuroscience, 2019
[Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations].
Xu H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.
Yi JJ et al.
Cell, 2015
Mutation Update for UBE3A variants in Angelman syndrome.
Sadikovic B et al.
Human Mutation, 2014
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