Litcius/Paper detail

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

2021European Journal of Medical Genetics20 citationsDOI

Topics & Concepts

GeneticsExomePenetranceExome sequencingSanger sequencingBiologyLoss functionMutationHuman geneticsDiseaseNonsense mutationGeneBioinformaticsMedicineMissense mutationPhenotypeInternal medicineCongenital Heart Disease StudiesCongenital heart defects researchCoronary Artery Anomalies