Skip to Main Content

Paper Details

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.
Pediatr Neurol
9
2019
Author NameAffiliation
Petter Str??mmeOslo University Hospital, University of Oslo
Christian Gilissen
  • 1 - 2

Datasets

Release 1.2