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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...

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Bibliografiske detaljer
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2014
Fag:
Online adgang: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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