A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor

While biallelic mutations in the PALB2 tumor suppressor cause Fanconi anemia subtype FA-N, monoallelic mutations predispose to breast and familial pancreatic cancer. Although hundreds of missense variants in PALB2 have been identified in patients to date, only a few have clear functional and clinica...

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Detalles Bibliográficos
Autores principales: Rodrigue, Amélie, Margaillan, Guillaume, Torres Gomes, Thiago, Coulombe, Yan, Montalban, Gemma, da Costa e Silva Carvalho, Simone, Milano, Larissa, Ducy, Mandy, De-Gregoriis, Giuliana, Dellaire, Graham, Araújo da Silva Jr, Wilson, Monteiro, Alvaro N, Carvalho, Marcelo A, Simard, Jacques, Masson, Jean-Yves
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Genome Integrity, Repair and Replication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6847799/
https://www.ncbi.nlm.nih.gov/pubmed/31586400
http://dx.doi.org/10.1093/nar/gkz780

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6847799/
https://www.ncbi.nlm.nih.gov/pubmed/31586400
http://dx.doi.org/10.1093/nar/gkz780

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