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Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies
Inherited retinal dystrophies (IRD) comprise a wide group of clinically and genetically complex diseases that progressively affect the retina. Over recent years, the development of next-generation sequencing (NGS) methods has transformed our ability to diagnose heterogeneous diseases. In this work,...
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| 出版年: | Sci Rep |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5299602/ https://ncbi.nlm.nih.gov/pubmed/28181551 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep42078 |
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