Probing Structure-Function Relationships in Missense Variants in the Carboxy-Terminal Region of BRCA1

Germline inactivating variants in BRCA1 lead to a significantly increased risk of breast and ovarian cancers in carriers. While the functional effect of many variants can be inferred from the DNA sequence, determining the effect of missense variants present a significant challenge. A series of bioch...

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Hlavní autoři: Carvalho, Renato S., Abreu, Renata B. V., Velkova, Aneliya, Marsillac, Sylvia, Rodarte, Renato S., Suarez-Kurtz, Guilherme, Iversen, Edwin S., Monteiro, Alvaro N. A., Carvalho, Marcelo A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2014
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4028255/
https://ncbi.nlm.nih.gov/pubmed/24845084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0097766
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