Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma

Patients harboring germline pathogenic biallelic variants in genes involved in the recognition and repair of DNA damage are known to have a substantially increased cancer risk. Emerging evidence suggests that individuals harboring heterozygous variants in these same genes may also be at heightened,...

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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Maciaszek, Jamie L., Oak, Ninad, Chen, Wenan, Hamilton, Kayla V., McGee, Rose B., Nuccio, Regina, Mostafavi, Roya, Hines-Dowell, Stacy, Harrison, Lynn, Taylor, Leslie, Gerhardt, Elsie L., Ouma, Annastasia, Edmonson, Michael N., Patel, Aman, Nakitandwe, Joy, Pappo, Alberto S., Azzato, Elizabeth M., Shurtleff, Sheila A., Ellison, David W., Downing, James R., Hudson, Melissa M., Robison, Leslie L., Santana, Victor, Newman, Scott, Zhang, Jinghui, Wang, Zhaoming, Wu, Gang, Nichols, Kim E., Kesserwan, Chimene A.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2019
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6824257/
https://ncbi.nlm.nih.gov/pubmed/31604778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004218
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