Article
Exploring the Functional Impact of Individual DDX41 Variants With a Fast and Robust Cell-Based Method.
Human mutation - 1 Jan 2026
Nitschke Nikolaj Juul, Almosailleakh Marwa, Issa Issa Ismail, Skov Clara Amanda, Lund Casper Carstens, Hansen Jakob Werner, Jespersen Jakob Schmidt, Raaschou-Jensen Klas, Schöllkopf Claudia, Severinsen Marianne Tang, Porse Bo, Weischenfeld Joachim, Roug Anne Stidsholt, Andersen Mette Klarskov, Frödin Morten, Grønbæk Kirsten
Abstract excerpt
Germline DDX41 variants are found in up to 4% of patients with acute myeloid leukemia (AML) and myelodysplastic neoplasms (MDSs), with a higher prevalence among males and a late onset. In this study, we analyzed 647 Danish patients with suspected myeloid neoplasms to assess the frequency of germline DDX41 variants and the functional impact of variants of uncertain significance (VUSs) using a cell-based assay,...
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