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Article

A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case report.

BMC medical genomics - 4 Mar 2022

Shin Woo Yong, Yoon Seug Yun, Park Rojin, Kim Jung-Ah, Song Ho Hyun, Bang Hae In, Won Jong-Ho, Kim Jieun

Abstract excerpt

BACKGROUND: The germline mutations of DDX41, also known as DEAD box RNA helicase 41, have been found in about 1.5% of myeloid neoplasms (MNs). Development of MDS/AML is relatively common in germline DDX41 mutations. However, a variety of hematological malignancies (HMs) have been reported. CASE PRESENTATION: We report a novel case of bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia (B-ALL), with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35246110
DOI: 10.1186/s12920-022-01191-2
PMCID: PMC8897883

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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