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
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency.
Cappuccio G et al.
Acta Paediatrica (oslo, Norway : 1992), 2019
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