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Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay - Journal of Human Genetics

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Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay - Journal of Human Genetics

As BRCA1/2 gene sequencing become more extensive, a large number VUS (variants of uncertain significance) emerge rapidly. Verifying the splicing effect is an effective means for VUS reclassification. The Minigene Assay platform was established and its reliability was verified in this article. 47 BRCA1 or BRCA2 variants were selected and performed to validate their effect on mRNA splicing.

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Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay - Journal of Human Genetics

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Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay - Journal of Human Genetics

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