SOX17 loss-of-function variation underlying familial congenital heart disease
Lan Zhao, Weifeng Jiang, Chenxi Yang, Qi Qiao, Ying‐Jia Xu, Hongyu Shi, Xing‐Biao Qiu, Shaohui Wu, Yi‐Qing Yang
Topics & Concepts
GeneticsExomePenetranceExome sequencingSanger sequencingBiologyLoss functionMutationHuman geneticsDiseaseNonsense mutationGeneBioinformaticsMedicineMissense mutationPhenotypeInternal medicineCongenital Heart Disease StudiesCongenital heart defects researchCoronary Artery Anomalies