Associated Papers
Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position.
van Esbroeck ACM et al.
Human Molecular Genetics, 2025
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
Geerts-Haages A et al.
Molecular Genetics & Genomic Medicine, 2020
Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform.
Sadhwani A et al.
American Journal of Medical Genetics. Part A, 2018
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