Next‐generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia

Abstract excerpt

Abstract Limited studies have been described DEAD‐box helicase 41 (DDX41) mutations in hematological diseases other than myeloid neoplasms. In this study, DDX41 mutations were identified in 0.8% of myeloid neoplasms, 0.9% of acute lymphoblastic leukemia (ALL), and 1.0% of aplastic anemia (AA). A total of 15 causal DDX41 variants in 14 patients were detected; seven of which have not been reported previously. In...

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