Article

Patient brain organoids identify a link between the 16p11.2 copy number variant and the <i>RBFOX1</i> gene

2021-11-23

Abstract excerpt

<h4>SUMMARY</h4> Copy number variants (CNVs) that delete or duplicate 30 genes within the 16p11.2 genomic region give rise to a range of neurodevelopmental phenotypes with high penetrance in humans. Despite the identification of this small region, the mechanisms by which 16p11.2 CNVs lead to disease are unclear. Relevant models, like human cortical organoids (hCOs), are needed to understand the human-specific mec...

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Literature Corpus work: 5c0ebced-a20d-59cb-82c5-0cafdc2eae67
DOI: 10.1101/2021.11.21.469432

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