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DDX41-associated susceptibility to myeloid neoplasms

1 Dec 2022

Abstract excerpt

Deleterious germ line DDX41 variants confer risk for myeloid neoplasms (MNs) and less frequently for lymphoid malignancies, with autosomal dominant inheritance and an estimated prevalence of 3% among MNs. Germ line DDX41 variants include truncating alleles that comprise about two-thirds of all alleles, missense variants located preferentially within the DEAD-box domain, and deletion variants. The identification...

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PMID: 36455200
DOI: 10.1182/blood.2022017715

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