Biallelic mutations in RNA-binding protein ADAD2 cause spermiogenic failure and non-obstructive azoospermia in humans.

Baolu Shi,Wasim Shah,Li Liu,Chenjia Gong,Jianteng Zhou,Tanveer Abbas,Hui Ma,Huan Zhang,Menglei Yang,Yuanwei Zhang,Nadeem Ullah,Zubair Mahammad,Mazhar Khan,Ghulam Murtaza,Asim Ali,Ranjha Khan,Jiahao Sha,Yan Yuan,Qinghua Shi

Human reproduction open（2023）

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摘要

This work was supported by the National Natural Science Foundation of China (32000587, U21A20204, and 32061143006), and the National Key Research and Developmental Program of China (2019YFA0802600 and 2021YFC2700202). This work was also supported by Institute of Health and Medicine, Hefei Comprehensive National Science Center, Hefei, China. The authors declare no competing interests.

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关键词

non-obstructive azoospermia, ADAD2, spermiogenesis, round spermatid injection, genetic counselling

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