Functional Characterization of Myeloid Neoplasm-associated DDX41 Variants Reveals Pathogenic Interaction with Acquired Hotspot Mutation
Julianna Fisher, Emily Stepanchick, Andrew Wilson, 木田 潤一郎, Mike Adam, Mariela V. Perez Otero, Talha Badar, Yael N. Kusne, Alejandro Ferrer, Mrinal M. Patnaik, 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.
bioRxiv · May 31, 2026 · PreprintCancer Biology