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A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma

PALB2 (partner and localizer of BRCA2) gene encodes a protein that colocalizes with BRCA2 in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. PALB2 plays a critical role in maintaining genome integrity through its role in the Fanconi anemia and homologo...

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Detalles Bibliográficos
Autores principales: Zhong, Yiming, Schubert, Jeffrey, Wu, Jinhua, Xu, Feng, Lin, Fumin, Cao, Kajia, Zelley, Kristin, Luo, Minjie, Foster, Jessica B., Cole, Kristina A., MacFarland, Suzanne P., Resnick, Adam C., Storm, Phillip B., Li, Marilyn M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476410/
https://www.ncbi.nlm.nih.gov/pubmed/32554798
http://dx.doi.org/10.1101/mcs.a005397