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    Shoubridge, C., Jackson, M., Grinton, B., Berkovic, S. F., Scheffer, I. E., Huskins, S., Thomas, A., & Ware, T. (2019). splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy. American journal of medical genetics, 179(8), 1483–1490. http://access.bl.uk/ark:/81055/vdc_100088850503.0x00002c