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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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Materias: | |
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 |
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