TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

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Publication year
2021Source
American Journal of Human Genetics, 108, 9, (2021), pp. 1669-1691ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Paediatrics
Journal title
American Journal of Human Genetics
Volume
vol. 108
Issue
iss. 9
Page start
p. 1669
Page end
p. 1691
Subject
All institutes and research themes of the Radboud University Medical Center; Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience; Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience; Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health SciencesThis item appears in the following Collection(s)
- Academic publications [227695]
- Electronic publications [108794]
- Faculty of Medical Sciences [87091]
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