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Mutations in the non-coding genome
PURPOSE OF REVIEW: Clinical diagnostic sequencing currently focuses on identifying causal mutations in the exome, where most disease-causing mutations are known to occur. The rest of the genome is mostly comprised of regulatory elements that control gene expression, but these have remained largely u...
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| 出版年: | Curr Opin Pediatr |
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| 主要な著者: | , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5084913/ https://ncbi.nlm.nih.gov/pubmed/26382709 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MOP.0000000000000283 |
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