Cancer BiologybioRxivPreprint
Functional Characterization of Myeloid Neoplasm-associated DDX41 Variants Reveals Pathogenic Interaction with Acquired Hotspot Mutation
Julianna Fisher, Emily Stepanchick, Andrew Wilson…·Timothy M. Chlon
The paper functionally characterizes DDX41 variants, showing some non-truncating germline variants are susceptible to dominant-negative effects by the somatic hotspot mutation p.R525H.
DOI 10.64898/2026.05.27.727893