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
33607653 (PubMed )
Supplement: bossuyt-hmg-2021-d-00033-supplemental_data-final_ddab050.zip › Bossuyt-HMG-2021-D-00033-Supplemental_data-final_ddab050.pdf
Copy number and sequence variants implicate APBA2 as an autism candidate gene.
Babatz TD et al.
Autism Research : Official Journal of the International Society for Autism Research, 2009
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