Associated Papers
A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability.
Noojarern S et al.
American Journal of Medical Genetics. Part A, 2024
Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability.
Zhu D et al.
Neurogenetics, 2022
A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review.
Huo L et al.
Brain and Behavior, 2019
Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia.
Ballarati L et al.
European Journal of Medical Genetics, 2012
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