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Article

The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms.

Blood - 18 Aug 2022

Li Peng, Brown Sara, Williams Margaret, White Thomas, Xie Wei, Cui Wei, Peker Deniz, Lei Li, Kunder Christian A, Wang Huan-You, Murray Sarah S, Vagher Jennie, Kovacsovics Tibor, Patel Jay L

Abstract excerpt

Germline DDX41 variants are the most common mutations predisposing to acute myeloid leukemia (AML)/myelodysplastic syndrome (MDS) in adults, but the causal variant (CV) landscape and clinical spectrum of hematologic malignancies (HMs) remain unexplored. Here, we analyzed the genomic profiles of 176 patients with HM carrying 82 distinct presumably germline DDX41 variants among a group of 9821 unrelated patients....

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Identifiers

PMID: 35671390
DOI: 10.1182/blood.2021015135
PMCID: PMC9389629

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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