Associated Papers
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
An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A.
Yi JJ et al.
Cell, 2015
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