Article

Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways

2020-04-13

Abstract excerpt

Variants in DNA regulatory elements can alter the regulation of distant genes through spatial-regulatory connections. In humans, these spatial-regulatory connections are largely set during early development, when the cohesin complex plays an essential role in genome organisation and cell division. A full complement of the cohesin complex and its regulators is important for normal development, since heterozygous mu...

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Literature Corpus work: 3588e94a-2ee9-5750-b48e-57b32cdd6947
DOI: 10.1101/2020.04.11.037358

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