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Functional assays for analysis of variants of uncertain significance in BRCA2

Missense variants in the BRCA2 gene are routinely detected during clinical screening for pathogenic mutations in patients with a family history of breast and ovarian cancer. These subtle changes frequently remain of unknown clinical significance because of the lack of genetic information that may he...

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Detalhes bibliográficos
Main Authors: Guidugli, Lucia, Carreira, Aura, Caputo, Sandrine M., Ehlen, Asa, Galli, Alvaro, Monteiro, Alvaro N.A., Neuhausen, Susan L., Hansen, Thomas V.O., Couch, Fergus J., Vreeswijk, Maaike P.G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3995136/
https://ncbi.nlm.nih.gov/pubmed/24323938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22478
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