Article

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

2019-04-09

Abstract excerpt

<h4>Purpose</h4> We aimed to gain insight into frequencies of genetic variants in genes implicated in neurodevelopmental disorder with epilepsy (NDD+E) by investigating large cohorts of patients in a diagnostic setting. <h4>Methods</h4> We analyzed variants in NDD+E using epilepsy gene panel sequencing performed between 2013 and 2017 by two large diagnostic companies. We compared variant frequencies in 6,994 pan...

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Literature Corpus work: 1bb8238e-8ab1-53b4-b778-cb026f2bd9f5
DOI: 10.1101/602524

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