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

More knowledge is needed regarding germline predisposition to Ewing sarcoma to inform biological investigation and clinical practice. Here, we evaluated the enrichment of pathogenic germline variants in Ewing sarcoma relative to other pediatric sarcoma subtypes, as well as patterns of inheritance of...

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Detalles Bibliográficos
Autores principales: Gillani, Riaz, Camp, Sabrina Y., Han, Seunghun, Jones, Jill K., Chu, Hoyin, O’Brien, Schuyler, Young, Erin L., Hayes, Lucy, Mitchell, Gareth, Fowler, Trent, Gusev, Alexander, Kamihara, Junne, Janeway, Katherine A., Schiffman, Joshua D., Crompton, Brian D., AlDubayan, Saud H., Van Allen, Eliezer M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9247831/
https://www.ncbi.nlm.nih.gov/pubmed/35512711
http://dx.doi.org/10.1016/j.ajhg.2022.04.007