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全外显子组测序和目标序列靶向捕获测序在遗传性视网膜变性基因诊断中的差异
OBJECTIVE: To evaluate and compare whole exome sequencing (WES) and targeted panel sequencing in the clinical molecular diagnosis of the Chinese families affected with inherited retinal dystrophies (IRDs). METHODS: The clinical information of 182 probands affected with IRDs was collected, including...
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| Izdano u: | Beijing Da Xue Xue Bao Yi Xue Ban |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
北京大学学报(医学版)编辑部
2020
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7653409/ https://ncbi.nlm.nih.gov/pubmed/33047716 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.19723/j.issn.1671-167X.2020.05.007 |
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