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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...
Autores principales: | 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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4028255/ https://www.ncbi.nlm.nih.gov/pubmed/24845084 http://dx.doi.org/10.1371/journal.pone.0097766 |
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