Associated Papers
A novel UBE2A splice site variant causing intellectual disability type Nascimento.
Yan S et al.
Clinical Case Reports, 2022
A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family.
Arslan Satılmış SB et al.
The Journal of Gene Medicine, 2021
A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type Nascimento.
Ma D et al.
Molecular Genetics & Genomic Medicine, 2019
UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism.
Giugliano T et al.
American Journal of Medical Genetics. Part A, 2018
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