Dr. Dulika Sumathipala
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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
Journal Paper
Sumathipala, D., Stromme, P., Gilissen, C., Corominas, J., et al.
Publication year: 2019