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Clinical Outcome and Molecular Profile in Patients with DDX41 Mutation Hot-Spots

8 May 2025

Abstract excerpt

Background/Objectives: DDX41, DEAD-box RNA helicase 41 gene located on chromosome 5q25.3, is one of the most mutated genes in patients with germline predisposition to myeloid neoplasms. Germline and somatic mutations often have different locations and patterns of mutation, with some hotspots displaying diversity based on ethnicity. We aimed to explore clinical outcomes in patients with various DDX41 hot-spot...

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PMID: 40407636
DOI: 10.3390/hematolrep17030026

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