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Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis

PURPOSE: When seeking a confirmed molecular diagnosis in the research setting, patients with one descriptive diagnosis of retinal disease could carry pathogenic variants in genes not specifically associated with that description. However, this event has not been evaluated systematically in clinical...

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Библиографические подробности
Опубликовано в: :PLoS One
Главные авторы: Wang, Xia, Feng, Yanming, Li, Jianli, Zhang, Wei, Wang, Jing, Lewis, Richard A., Wong, Lee-Jun
Формат: Artigo
Язык:Inglês
Опубликовано: Public Library of Science 2016
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5082937/
https://ncbi.nlm.nih.gov/pubmed/27788217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0165405
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