Article

Functional Characterization of Myeloid Neoplasm-associated DDX41 Variants Reveals Pathogenic Interaction with Acquired Hotspot Mutation

2026-05-31

Abstract excerpt

Germline variants in DDX41 are the most frequent genetic predisposition to adult hematologic malignancies. The most common variants are truncating, implicating loss of function in the pathogenesis. However, non-truncating variants account for 30-40% of cases, and their impact on essential DDX41 functions remains unknown. We utilized a genetic complementation assay to assess the functionality of 10 recurrent germ...

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Literature Corpus work: 2b28fe3a-ce2c-507c-bdef-35af6990d7f0
DOI: 10.64898/2026.05.27.727893

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