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Prevalence of cytopenia(s) and somatic variants in patients with DDX41 mutant germline predisposition syndrome

4 Mar 2025

Abstract excerpt

Summary Germline variants in DDX41 (DDX41MT‐germline predisposition syndrome [GPS]) are associated with predisposition to haematological malignancies (HM), including lymphoid and myeloid neoplasms (MN). We retrospectively analysed the clinical and molecular features of 195 patients diagnosed and treated at Mayo Clinic with DDX41MT‐GPS. Patients with germline DDX41 pathogenic variants (42.3%) and variants of...

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PMID: 40040251
DOI: 10.1111/bjh.20018

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