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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Bibliografiset tiedot
Julkaisussa:Am J Hum Genet
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2020
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Article
Linkit: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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