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Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans

Huan Wu, Xin Zhang, Rong Hua, Yuqian Li, Cheng Li, Kuokuo Li, Yiyuan Liu, Yang Gao, Qunshan Shen, Guanxiong Wang, Mingrong Lv, Yuping Xu, Xiaojin He, Yunxia Cao, Mingxi Liu

2022Human Genetics27 citationsDOI

Topics & Concepts

BiologyMissense mutationGeneticsMeiosisChromatidMutationChromosomeGeneDNA Repair MechanismsNuclear Structure and FunctionRenal and related cancers