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Human Molecular Genetics|March 25, 2016
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithmsMiguel de la Hoya, Omar Soukarieh, Irene López-Perolio, et al.JAMA|April 8, 2015
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancerTimothy R Rebbeck, Nandita Mitra, Fei Wan, et al.Pageof 3