Article

Refinement of the Classification of <i>DDX41</i> Variants Through Analysis of Aggregated Clinical Datasets

2025-10-09

Abstract excerpt

<h4>ABSTRACT</h4> Deleterious germline DDX41 variants are the leading cause of heritable predisposition to myelodysplastic syndrome and acute myeloid leukemia (MDS/AML). Accurate classification of pathogenicity is crucial for managing patients and their families. The absence of specific guidelines, along with late-onset disease, incomplete penetrance, and founder variants, poses challenges in clinical and laborat...

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Literature Corpus work: b21f2122-cfa5-587a-882e-1beab679641a
DOI: 10.1101/2025.10.07.25335301

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