Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility

The germline TP53 p.R337H mutation is reported as the most common germline TP53 variant. It exists at a remarkably high frequency in the population of southeast Brazil as founder mutation in two distinct haplotypes with the most frequent co-segregating with the p.E134∗ variant of the XAF1 tumor supp...

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Detalles Bibliográficos
Autores principales: Pinto, Emilia M., Fridman, Cintia, Figueiredo, Bonald C., Salvador, Hector, Teixeira, Manuel R., Pinto, Carla, Pinheiro, Manuela, Kratz, Christian P., Lavarino, Cinzia, Legal, Edith A.M. F., Le, Anh, Kelly, Gregory, Koeppe, Erika, Stoffel, Elena M., Breen, Kelsey, Hahner, Stefanie, Heinze, Britta, Techavichit, Piti, Krause, Amanda, Ogata, Tsutomu, Fujisawa, Yasuko, Walsh, Michael F., Rana, Huma Q., Maxwell, Kara N., Garber, Judy E., Rodriguez-Galindo, Carlos, Ribeiro, Raul C., Zambetti, Gerard P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10597792/
https://www.ncbi.nlm.nih.gov/pubmed/37794678
http://dx.doi.org/10.1016/j.xhgg.2023.100244

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