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

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Title:	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
Author(s):	Sumathipala, D.; Stromme, P.; Gilissen, C.F. ; Corominas, J.; Frengen, E.; Misceo, D.
Publication year:	2019
Source:	Pediatric Neurology, vol. 96, (2019), pp. 74-75
ISSN:	0887-8994
DOI:	https://doi.org/10.1016/j.pediatrneurol.2019.02.001
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/206725
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Subject:	Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience Radboudumc 6: Mitochondrial diseases RIMLS: Radboud Institute for Molecular Life Sciences
Organization:	Human Genetics
Journal title:	Pediatric Neurology
Volume:	vol. 96
Page start:	p. 74
Page end:	p. 75