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Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making
Understanding the medical effect of an ever-growing number of human variants detected is a long term challenge in genetic counseling. Functional assays, based on in vitro or in vivo evaluations of the variant effects, provide essential information, but they require robust statistical validation, as...
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| 出版年: | PLoS Genet |
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| 主要な著者: | , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Public Library of Science
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4894565/ https://ncbi.nlm.nih.gov/pubmed/27272900 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006096 |
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