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Article

Germline deletion of ETV6 in familial acute lymphoblastic leukemia

2 Apr 2019

Abstract excerpt

Abstract Recent studies have identified germline mutations in TP53, PAX5, ETV6, and IKZF1 in kindreds with familial acute lymphoblastic leukemia (ALL), but the genetic basis of ALL in many kindreds is unknown despite mutational analysis of the exome. Here, we report a germline deletion of ETV6 identified by linkage and structural variant analysis of whole-genome sequencing data segregating in a kindred with...

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PMID: 30940639
DOI: 10.1182/bloodadvances.2018030635

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