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A novel statistical method for interpreting the pathogenicity of rare variants
PURPOSE: To achieve the ultimate goal of personalized treatment of patients, accurate molecular diagnosis and precise interpretation of the impact of genetic variants on gene function is essential. With the sequencing cost becoming increasingly affordable, accurate distinguishing benign from pathoge...
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| 出版年: | Genet Med |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2020
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7796914/ https://ncbi.nlm.nih.gov/pubmed/32884132 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-00948-3 |
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