Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study
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DOI: 10.1002/humu.23583
Abstract: Many BRCA1 and BRCA2 (BRCA1/2) genetic variants have been studied at mRNA level and linked to hereditary breast and ovarian cancer due to splicing alteration. In silico tools are reliable when assessing variants located in… read more here.
Keywords: located regions; brca2 7976; spliceogenic variants; variants located ... See more keywords