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Article

Significance of hereditary gene alterations for the pathogenesis of adult bone marrow failure versus myeloid neoplasia.

Leukemia - 1 Dec 2022

Kubota Yasuo, Zawit Misam, Durrani Jibran, Shen Wenyi, Bahaj Waled, Kewan Tariq, Ponvilawan Ben, Mori Minako, Meggendorfer Manja, Gurnari Carmelo, LaFramboise Thomas, Feurstein Simone, Sekeres Mikkael A, Visconte Valeria, Godley Lucy A, Haferlach Torsten, Maciejewski Jaroslaw P

Abstract excerpt

Broader genetic screening has led to the growing recognition of the role of germline variants associated with adult bone marrow failure (BMF) and myeloid neoplasia (MN) not exclusively in children and young adults. In this study, we applied a germline variant panel to 3008 adult BMF and MN cases to assess the importance of germline genetics and its impact on disease phenotype and prognosis. In our cohort, up to...

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PMID: 36266327
DOI: 10.1038/s41375-022-01729-4

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BMF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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