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Paper Details

A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.
American Journal of Medical Genetics, Part A
3
2020
A, AS, Angelman syndrome, RNA, UBE3A, acceptor splice site, blood, c.3-12T, genetic disorders, genetic neurodevelopmental disorder, maternally inherited allele, odyssey, patient, splicing variant
Author NameAffiliation
Susan WalkerThe Hospital for Sick Children
Christian R MarshallThe Hospital for Sick Children
Christian R MarshallThe Hospital for Sick Children
Christian R MarshallUniversity of Toronto
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Release 1.2