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An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases

PURPOSE: We evaluate the power of a next-generation sequencing-based ophthalmic targeted sequencing panel (NGS-based OTSP) as a genetics-testing tool for patients suspected of a wide range of hereditary eye diseases. METHODS: NGS-based OTSP encompasses 126 genes with identified mutations that accoun...

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Bibliografiset tiedot
Julkaisussa:Transl Vis Sci Technol
Päätekijät: Wang, Panfeng, Li, Shiqiang, Sun, Wenming, Xiao, Xueshan, Jia, Xiaoyun, Liu, Mengchu, Xu, Lieqiang, Long, Yuxi, Zhang, Qingjiong
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The Association for Research in Vision and Ophthalmology 2019
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6497090/
https://ncbi.nlm.nih.gov/pubmed/31106028
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/tvst.8.2.21
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