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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Publication year
2019
Author(s)
Sumathipala, D.
Stromme, P.
Gilissen, C.F.
Corominas, J.
Frengen, E.
Misceo, D.
Source
Pediatric Neurology, 96, (2019), pp. 74-75
ISSN
DOI
Publication type
Article / Letter to editor
Please use this identifier to cite or link to this item:http://hdl.handle.net/2066/206725   http://hdl.handle.net/2066/206725
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