Germline pathogenic variants in 786 neuroblastoma patients

IMPORTANCE: Neuroblastoma accounts for 12% of childhood cancer deaths. The genetic contribution of rare pathogenic germline variation in patients without a family history remains unclear. OBJECTIVE: To define the prevalence, spectrum, and clinical significance of pathogenic germline variation in can...

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Detalles Bibliográficos
Autores principales: Kim, Jung, Vaksman, Zalman, Egolf, Laura E., Kaufman, Rebecca, Evans, J. Perry, Conkrite, Karina L., Danesh, Arnavaz, Lopez, Gonzalo, Randall, Michael P., Dent, Maiah H., Farra, Lance M., Menghani, Neil, Dymek, Malwina, Desai, Heena, Hausler, Ryan, Auvil, Jaime Guidry, Gerhard, Daniela S., Hakonarson, Hakon, Maxwell, Kara N., Cole, Kristina A., Pugh, Trevor J., Bosse, Kristopher R., Khan, Javed, Wei, Jun S., Maris, John M., Stewart, Douglas R., Diskin, Sharon J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9901064/
https://www.ncbi.nlm.nih.gov/pubmed/36747619
http://dx.doi.org/10.1101/2023.01.23.23284864

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