TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery
Publication year
2019Source
Pediatric Neurology, 96, (2019), pp. 74-75ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Journal title
Pediatric Neurology
Volume
vol. 96
Page start
p. 74
Page end
p. 75
Subject
Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience; Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life SciencesThis item appears in the following Collection(s)
- Academic publications [227727]
- Faculty of Medical Sciences [86204]
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