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Characterization of PAX5 intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping

4 Mar 2022

Abstract excerpt

The PAX5 (paired-box domain gene 5) gene encodes a transcription factor with a key role in regulating B-cell differentiation. 1 PAX5 abnormalities are observed in 30% of B-lymphoblastic leukemia (B-ALL) cases, occurring as secondary changes in association with different subtype-defining genetic drivers, 2 but recently also described as primary oncogenic alterations in 2 novel genetic subtypes of the disease: PAX5...

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PMID: 35245931
DOI: 10.1182/bloodadvances.2021006328

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