Whole-exome sequencing reveals novel variants associated with abnormal uterine bleeding caused by copper intrauterine device Supplementary Materials

Yupei Shen, Xiaoli Liu, Linfen Xu, Weiqiang Zhu, Zhaofeng Zhang, Junwei Liu, Lifang Jiang, Yanyan Mao, Jianhua Xu, Xiaoqin Yan, Junjie Sun, Fang Liu, Xiumei Xiong, Xiujuan Chen, Yan Che & Jing Du
Aim: This study aimed to explore the genetic risk factors and validate variants of abnormal uterine bleeding after copper intrauterine device insertion. Methods: Whole-exome sequencing was performed and several variants were validated by Sequenom MassARRAY. Results: Eight variants showed potential clinical damage according to American College of Medical Genetics and Genomics criteria. By combined analysis of screening and validation, NFASC RS2802808 C>G p.Ile971Met (Pallele = 0.009 and Pgenotype = 0.027) and PIGR RS2275531 C>T p.Gly365Ser...
1 citation reported since publication in 2022.
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