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Germline DDX41 mutations define a significant entity within adult MDS/AML patients

4 Sept 2019

Abstract excerpt

Germline DDX41 mutations are involved in familial myelodysplastic syndromes (MDSs) and acute myeloid leukemias (AMLs). We analyzed the prevalence and characteristics of DDX41-related myeloid malignancies in an unselected cohort of 1385 patients with MDS or AML. Using targeted next-generation sequencing, we identified 28 different germline DDX41 variants in 43 unrelated patients, which we classified as causal (n =...

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PMID: 31484648
DOI: 10.1182/blood.2019000909

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