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Diagnostic exome sequencing in 266 Dutch patients with visual impairment

22 Feb 2017

Abstract excerpt

Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed in which data analysis was divided into two steps: the vision gene panel and exome analysis. In the vision gene panel analysis, variants in genes known to cause inherited eye disorders were assessed for pathogenicity. If no causative variants were detected...

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PMID: 28224992
DOI: 10.1038/ejhg.2017.9

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