Associated Papers
Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A.
Gunelson AM et al.
Journal of Human Genetics, 2025
40316779 (PubMed )
Supplement: 10038_2025_1343_MOESM2_ESM.xlsx › Sheet1
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.
Weston KP et al.
Nature Communications, 2021
34815418 (PubMed )
Supplement: 41467_2021_27156_MOESM1_ESM.pdf
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