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The clinical and genomic landscape of patients with DDX41 variants identified during diagnostic sequencing

24 Oct 2023

Abstract excerpt

Deleterious germ line variants in DDX41 are a common cause of genetic predisposition to hematologic malignancies, particularly myelodysplastic neoplasms (MDS) and acute myeloid leukemia (AML). Targeted next-generation sequencing was performed in a large cohort of sequentially recruited patients with myeloid malignancy, covering DDX41 as well as 30 other genes frequently mutated in myeloid malignancy. Whole genome...

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PMID: 37874914
DOI: 10.1182/bloodadvances.2023011389

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