The somatic hotspot mutation of DDX41 (p.R525H) elicits dominant-negative effects upon non-truncating germline variants, explaining similar disease risk as truncating variants.
Year: 2025
Type: conference-abstract
Source: Blood
Authors: Julianna Fisher, Emily Stepanchick, Andrew Wilson, Junichiro Kida, Talha Badar, Terra Lasho, Yael Kusne, Mrinal Patnaik, Timothy Chlon
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: closed
OpenAlex ID: W4417005966
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