Research Article
Whole Exome- and mRNA-Sequencing of an AT/RT Case Reveals Few Somatic Mutations and Several Deregulated Signalling Pathways in the Context of SMARCB1 Deficiency
Table 1
Clinical data and mutation summary.
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Initial operation performed. Subt. = Subtotal. Residual = additional operation had to be done to remove residual tumour. bSelected IHC marker from pathology analysis. cEU-RHAB includes several chemotherapy drugs including Doxorubicin, Ifosfamide, Carboplatinum, Etoposide, Vincristine, and Cyclophosphamide. dThe uncommon and predicted damaging variants. |