Associated Papers
Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.
Bossuyt SNV et al.
Human Molecular Genetics, 2021
Mutation Update for UBE3A variants in Angelman syndrome.
Sadikovic B et al.
Human Mutation, 2014
Parental origin and functional relevance of a de novo UBE3A variant.
Horsthemke B et al.
European Journal of Medical Genetics, 0
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