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Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes

1 Jul 2022

Abstract excerpt

Patients with severe aplastic anemia (SAA) can have an unrecognized inherited bone marrow failure syndrome (IBMFS) because of phenotypic heterogeneity. We curated germline genetic variants in 104 IBMFS-associated genes from exome sequencing performed on 732 patients who underwent hematopoietic cell transplant (HCT) between 1989 and 2015 for acquired SAA. Patients with pathogenic or likely pathogenic (P/LP)...

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PMID: 35776903
DOI: 10.1182/blood.2022016508

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