Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay

Single-nucleotide substitutions and small in-frame insertions or deletions identified in human breast cancer susceptibility genes BRCA1 and BRCA2 are frequently classified as variants of unknown clinical significance (VUS) due to the availability of very limited information about their functional co...

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Main Authors: Biswas, Kajal, Das, Ranabir, Eggington, Julie M., Qiao, Huanyu, North, Susan L., Stauffer, Stacey, Burkett, Sandra S., Martin, Betty K., Southon, Eileen, Sizemore, Scott C., Pruss, Dmitry, Bowles, Karla R., Roa, Benjamin B., Hunter, Neil, Tessarollo, Lino, Wenstrup, Richard J., Byrd, R. Andrew, Sharan, Shyam K.
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2012
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Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3428152/
https://ncbi.nlm.nih.gov/pubmed/22678057
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds222
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