Homozygous variants in PANX1 cause human oocyte death and female infertility

Wang, WJ; Qu, RG; Dou, Q; Wu, FY; Wang, WJ; Chen, BB; Mu, J; Zhang, ZH; Zhao, L; Zhou, Z; Dong, J; Zeng, Y; Liu, RY; Du, J; Zhu, SJ; Li, QL; He, L; Jin, L; Wang, L; Sang, Q

Wang, L; Sang, Q (corresponding author), Fudan Univ, Childrens Hosp, Inst Pediat, Shanghai 200032, Peoples R China.; Wang, L; Sang, Q (corresponding author), Fudan Univ, Shanghai Key Lab Med Epigenet, Int Colab Med Epigenet & Metab, Minist Sci & Technol, Shanghai 200032, Peoples R China.; Wang, L; Sang, Q (corresponding author), Fudan Univ, State Key Lab Genet Engn, Shanghai 200032, Peoples R China.; Wang, L; Sang, Q (corresponding author), Zhuhai Fudan Innovat Inst, Zhuhai 519000, Peoples R Chi

EUROPEAN JOURNAL OF HUMAN GENETICS, ; ():

Abstract

PANX1, one of the members of the pannexin family, is a highly glycosylated channel-forming protein. Recently, we identified heterozygous variants in P......

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