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Germline predisposition to pediatric Ewing sarcoma is uniquely characterized by inherited pathogenic variants in DNA damage repair genes

2022-01-11

Abstract excerpt

More knowledge is needed around the role and importance of specific genes in germline predisposition to Ewing sarcoma to inform biological investigation and clinical practice. In this study, we evaluated the enrichment of pathogenic germline variants in Ewing sarcoma relative to other pediatric sarcoma subtypes, as well as patterns of inheritance of these variants. We carried out an ancestry-matched case-control a...

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Identifiers and source

Literature Corpus work
6046a370-f4e9-58f3-b7f0-35fcb605ec26
DOI
10.1101/2022.01.07.22268685
Open publication

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Germline predisposition to pediatric Ewing sarcoma is uniquely characterized by inherited pathogenic variants in DNA damage repair genesDOI 10.1101/2022.01.07.22268685
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