Article

Targeted Sequencing and Integrative Analysis to Prioritise Candidate Genes in Neurodevelopmental Disorders

2021-02-15

Abstract excerpt

<title>Abstract</title> <p>Neurodevelopmental disorders (NDDs) are a group of diseases characterized by highly heterogeneity and frequently co-occur symptoms. The mutational spectrum in patients with NDDs is largely incomplete. Here, we sequenced 547 genes from 1,102 patients with NDDs and validated 1,271 potential functional variants, including 108 <italic>de novo</italic> variants (DNVs) in 78 autosomal genes a...

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Literature Corpus work: b329f3b5-98dc-599d-835f-20e9e0fd3e82
DOI: 10.21203/rs.3.rs-191713/v1

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