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<i>STX18-AS1</i> is a Long Noncoding RNA predisposing to Atrial Septal Defect via downregulation of <i>NKX2-5</i> in differentiating cardiomyocytes

2020-05-30

Abstract excerpt

Previous genome-wide association studies (GWAS) have identified a region of chromosome 4p16 associated with the risk of Atrial Septal Defect (ASD), which is among the commonest Congenital Heart Disease (CHD) phenotypes. Here, we identify the responsible gene in the region and elucidate disease mechanisms. Linkage disequilibrium in the region, eQTL analyses in human atrial tissues, and spatio-temporal gene expressi...

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Literature Corpus work
3c9673d2-57b2-5123-a297-2a49937e0914
DOI
10.1101/2020.05.27.118349
Open publication

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