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Functional noncoding variants within the TBX1 enhancer contribute to tetralogy of Fallot.

Jimiao Gao T. Jiang Yingyi Quan Xinyue Liu Min Da Jiang Jiang Jun Zhou Hao Sun Yan Zhou Wanting Ma Zi-Cheng Zhang Yiwei Cheng Jing Xu Juncheng Dai Hong-Xia Ma Guang-Fu Jin Yuan Lin Xu-Ming Mo Cheng Wang Hong-Bing Shen Ya-Yun Gu Yang Yang Zhibin Hu
Jul 2026 · Science China Life Sciences · 0 citations · 43 references
Medicine

TL;DR

This study demonstrates the involvement of noncoding variants in the TBX1 enhancer in TOF pathogenesis, highlighting the feasibility of using organoids to decipher the underlying mechanisms of unconserved noncoding regions in developmental malformations.

DOI PubMed Semantic Scholar
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