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The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
Although the spliceogenic nature of the BRCA2 c.68‐7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real‐time PCR and digital PCR (dPCR), the BRCA2 isoforms retaining or missing exon 3. In addition, the combin...
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