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Shoubridge, C and Jackson, M and Grinton, B and Berkovic, SF and Scheffer, IE and Huskins, S and Thomas, A and Ware, T, “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, Part A, 179 (8) pp. 1483-1490. ISSN 1552-4825 (2019) [Refereed Article]
Data TypeValue
Type of ResearchStrategic Basic Research
Research DivisionBiomedical and Clinical Sciences
Research GroupNeurosciences
Research FieldCentral nervous system
Research Objective DivisionHealth
Research Objective GroupClinical health
Research Objective FieldClinical health not elsewhere classified
Visit Item on eCitehttp://ecite.utas.edu.au/137601
Digital Object Identifierdoi:10.1002/ajmg.a.61216
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Number of Times Cited7