Litcius/Paper detail

Homozygous variants in PANX1 cause human oocyte death and female infertility

Weijie Wang, Ronggui Qu, Qian Dou, Fengyan Wu, Wenjing Wang, Biaobang Chen, Jian Mu, Zhihua Zhang, Lin Zhao, Zhou Zhou, Jie Dong, Yang Zeng, Ruyi Liu, Jing Du, Shujia Zhu, Qiaoli Li, Lin He, Jin Li, Lei Wang, Qing Sang

2021European Journal of Human Genetics26 citationsDOIOpen Access PDF

Topics & Concepts

BiologyOocyteGeneticsMissense mutationPhenotypeInfertilityNon-Mendelian inheritanceGenePregnancyEmbryoMitochondrial DNAConnexins and lens biologyRNA regulation and disease