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Article

Human mutational constraint as a tool to understand biology of rare and emerging bone marrow failure syndromes.

Blood advances - 27 Oct 2020

Oved Joseph H, Babushok Daria V, Lambert Michele P, Wolfset Nicole, Kowalska M Anna, Poncz Mortimer, Karczewski Konrad J, Olson Timothy S

Abstract excerpt

Inherited bone marrow failure (IBMF) syndromes are rare blood disorders characterized by hematopoietic cell dysfunction and predisposition to hematologic malignancies. Despite advances in the understanding of molecular pathogenesis of these heterogeneous diseases, genetic variant interpretation, genotype-phenotype correlation, and outcome prognostication remain difficult. As new IBMF and other myelodysplastic...

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Identifiers

PMID: 33104793
DOI: 10.1182/bloodadvances.2020002687
PMCID: PMC7594375

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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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