Genetic & Genomic MedicinemedRxivPreprint
Upregulation of TBX1 by genetic variants are associated with human congenital heart disease
Li-Wei Yu, Binbin Li, Hongyan Wang
This study identifies a genetic variant in TBX1 associated with congenital heart disease and shows it increases TBX1 promoter activity and risk.
DOI 10.1101/2021.07.21.21260948