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Combined annotation‐dependent depletion score for BRCA1/2 variants in patients with breast and/or ovarian cancer
Utility of combined annotation‐dependent depletion (CADD) score was recently reported to rank pathogenicity as C‐scores ranging 1‐99 for both confirmed deleterious mutation. Using C‐scores for BRCA1/2 variants, we tried to constitute the classification system for variant of uncertain significance (V...
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| 出版年: | Cancer Sci |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5797818/ https://ncbi.nlm.nih.gov/pubmed/29215753 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cas.13464 |
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