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Massively Parallel Functional Analysis of BRCA1 RING Domain Variants
Interpreting variants of uncertain significance (VUS) is a central challenge in medical genetics. One approach is to experimentally measure the functional consequences of VUS, but to date this approach has been post hoc and low throughput. Here we use massively parallel assays to measure the effects...
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| 出版年: | Genetics |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Genetics Society of America
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4492368/ https://ncbi.nlm.nih.gov/pubmed/25823446 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/genetics.115.175802 |
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