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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2012
Sujets:
Articles
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires