Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest

Normal oocyte meiosis is a prerequisite for successful human reproduction, and abnormalities in the process will result in infertility. In 2016, we identified mutations in TUBB8 as responsible for human oocyte meiotic arrest. However, the underlying genetic factors for most affected individuals rema...

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Publicado en:Am J Hum Genet
Main Authors: Zhang, Zhihua, Li, Bin, Fu, Jing, Li, Rong, Diao, Feiyang, Li, Caihong, Chen, Biaobang, Du, Jing, Zhou, Zhou, Mu, Jian, Yan, Zheng, Wu, Ling, Liu, Shuai, Wang, Wenjing, Zhao, Lin, Dong, Jie, He, Lin, Liang, Xiaozhen, Kuang, Yanping, Sun, Xiaoxi, Sang, Qing, Wang, Lei
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2020
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7332649/
https://ncbi.nlm.nih.gov/pubmed/32473092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.05.001
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