Article

Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

2018-02-01

Abstract excerpt

<h4>Purpose</h4> To assess the contribution of rare variants in the genetic background towards variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive mutations. <h4>Methods</h4> We analyzed quantitative clinical information, exome-sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated mutations. <h...

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Literature Corpus work: 9c095ee0-1162-5d68-a4c9-93b87b4fb31b
DOI: 10.1101/257758

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