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Paper Details

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Hum Mutat
8
2022
Author NameAffiliation
Anuj JayakarNicklaus Children's Hospital
Jenny C TaylorUniversity of Oxford
Mahmoud Y IssaClinical Genetics Department, National Research Centre
Fowzan S AlkurayaCenter for Genomics Medicine, King Faisal Specialist Hospital and Research Centre
Fowzan S AlkurayaAlfaisal University
Maha S ZakiClinical Genetics Department, National Research Centre
Joseph G GleesonRady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California
Henry HouldenUCL Queen Square Institute of Neurology, University College London
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Release 1.2