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Disrupted transcriptional networks regulated by <i>CHD1L</i> during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant

2025-02-19

Abstract excerpt

<h4>ABSTRACT</h4> Distal 1q21.1 deletions and duplications are associated with variable phenotypes including autism, head circumference and height defects. To elucidate which gene(s) are responsible for the 1q21.1 duplication/deletion-associated phenotypes, we performed gene manipulation in zebrafish and mice. We modeled 1q21.1 duplication by overexpressing the eight human protein-coding genes in zebrafish. We fo...

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Literature Corpus work
c61860df-4575-5a11-acd3-8adbaca5ab4f
DOI
10.1101/2025.02.18.638841
Open publication

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Disrupted transcriptional networks regulated by <i>CHD1L</i> during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variantDOI 10.1101/2025.02.18.638841
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