Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
SourceAmerican Journal of Human Genetics, 108, 11, (2021), pp. 2130-2144
Article / Letter to editor
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American Journal of Human Genetics
SubjectAll institutes and research themes of the Radboud University Medical Center; Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience; Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences
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