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Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information
ArticleAbstract: Classification of rare missense variants in disease susceptibility genes as neutral or disease-causiPalabras claves:BRCA1, classification model, Unclassified variantsAutores:Barroso A., Benitez J., De la Hoya M., Díez O., Honrado E., Milne R.L., Osorio A., Raquel Salazar-Lugo, Vega A.Fuentes:scopusGenomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer
ArticleAbstract: Background: Large genomic rearrangements (LGRs) account for a substantial proportion of the BRCA1 diPalabras claves:Autores:Benitez J., Caldés T., Carracedo Á., De la Hoya M., Díaz-Rubio E., Díez O., Esteban E., González-Sarmiento R., Gutiérrez-Enríquez S., Llort G., Miner C., Osorio A., Raquel Salazar-Lugo, Sánchez-de-Abajo A., Vega A., Velasco E.Fuentes:scopus