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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Pubblicato in:Am J Hum Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2020
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Article
Accesso online: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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