Article

A multi-enhancer <i>RET</i> regulatory code is disrupted in Hirschsprung disease

2020-06-18

Abstract excerpt

The major genetic risk factors for Hirschsprung disease (HSCR) are three common polymorphisms within cis regulatory elements (CREs) of the RET receptor tyrosine kinase gene that reduce its gene expression during enteric nervous system (ENS) development. These variants have synergistic effects on RET gene expression and additionally dysregulate other ENS and HSCR genes in the RET-EDNRB gene regulatory network (...

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Literature Corpus work: b1290a0c-8723-564f-a780-d20836374adc
DOI: 10.1101/2020.06.18.159459

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