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Reclassifying BRCA1 C.4358-2A > G and BRCA2 C.475 + 5G > C Variants from “uncertain Significance” to “pathogenic” Based on Minigene Assays and Clinical Evidence

Journal of Cancer Research and Clinical Oncology(2024)

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关键词
Ovarian neoplasm,BRCA1/2,Intronic variant,Splice
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