Article

Comprehensive genetic analysis by whole exome sequencing in 352 Korean pediatric patients with unknown neurodevelopmental disorders

2018-11-18

Abstract excerpt

<h4>Importance</h4> Accurate diagnosis of pediatric patients with complicated neurological problems demands a well-coordinated combination of robust genetic analytic capability and delicate clinical evaluation. It should be tested whether this challenge can be augmented by whole exome sequencing (WES). <h4>Objective</h4> To evaluate the utility of WES-based diagnosis and discovery of novel variants of undiagnose...

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Literature Corpus work: 976a2cd8-4322-518c-ac67-b8545b116aae
DOI: 10.1101/472803

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