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文献和实验Functional Analysis of Human BRCA2 Variants Using a Mouse Embryonic Stem Cell-Based Assay
We describe here a comprehensive and reliable assay to test the functional significance of variants of unknown clinical significance (VUS) identified in the human breast cancer susceptibility gene, BRCA2 . The assay is based on the ability
Developing Functional Assays for BRCA1 Unclassified Variants
Women with a family history of breast cancer have mutations in one of the breast cancer susceptibility genes, BRCA1 or BRCA2 . Since the discovery of these two genes, around 100,000 women worldwide have undergone genetic testing
for inherited breast cancer . Fig 3 - Rapid screen for truncating ATM mutations by PTT-ELISA Fig 4 - An ELISA-based high throughput protein truncation test for inherited breast cancer shilei5794749 Fig2 - Molecular Detection
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