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Article

Landscape of pathogenic mutations in premature ovarian insufficiency.

Nature medicine - 1 Feb 2023

Ke Hanni, Tang Shuyan, Guo Ting, Hou Dong, Jiao Xue, Li Shan, Luo Wei, Xu Bingying, Zhao Shidou, Li Guangyu, Zhang Xiaoxi, Xu Shuhua, Wang Lingbo, Wu Yanhua, Wang Jiucun, Zhang Feng, Qin Yingying, Jin Li, Chen Zi-Jiang

Abstract excerpt

Premature ovarian insufficiency (POI) is a major cause of female infertility due to early loss of ovarian function. POI is a heterogeneous condition, and its molecular etiology is unclear. To identify genetic variants associated with POI, here we performed whole-exome sequencing in a cohort of 1,030 patients with POI. We detected 195 pathogenic/likely pathogenic variants in 59 known POI-causative genes,...

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Identifiers

PMID: 36732629
DOI: 10.1038/s41591-022-02194-3
PMCID: PMC9941050

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