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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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Wang, Xia, Feng, Yanming, Li, Jianli, Zhang, Wei, Wang, Jing, Lewis, Richard A., Wong, Lee-Jun
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2016
Assuntos:
Acesso em linha: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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