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Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants

Germline inactivating mutations in BRCA1 and BRCA2 genes are responsible for Hereditary Breast and Ovarian Cancer Syndrome (HBOCS). Genetic testing of these genes is available, although approximately 15% of tests identify variants of uncertain significance (VUS). Classification of these variants int...

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Detalhes bibliográficos
Main Authors: Quiles, Francisco, Fernández-Rodríguez, Juana, Mosca, Roberto, Feliubadaló, Lídia, Tornero, Eva, Brunet, Joan, Blanco, Ignacio, Capellá, Gabriel, Pujana, Miquel Àngel, Aloy, Patrick, Monteiro, Alvaro, Lázaro, Conxi
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3629201/
https://ncbi.nlm.nih.gov/pubmed/23613828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0061302
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