UHRF1BP1 c.302A>G ;(p.N101S)

Variant ID: 6-34791089-A-G

NM_017754.3(UHRF1BP1):c.302A>G;(p.N101S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.

Genome Biology
Li, Qun Q; Zhao, Lin L; Zeng, Yang Y; Kuang, Yanping Y; Guan, Yichun Y; Chen, Biaobang B; Xu, Shiru S; Tang, Bin B; Wu, Ling L; Mao, Xiaoyan X; Sun, Xiaoxi X; Shi, Juanzi J; Xu, Peng P; Diao, Feiyang F; Xue, Songguo S; Bao, Shihua S; Meng, Qingxia Q; Yuan, Ping P; Wang, Wenjun W; Ma, Ning N; Song, Di D; Xu, Bei B; Dong, Jie J; Mu, Jian J; Zhang, Zhihua Z; Fan, Huizhen H; Gu, Hao H; Li, Qiaoli Q; He, Lin L; Jin, Li L; Wang, Lei L; Sang, Qing Q
Publication Date: 2023-04-06

Variant appearance in text: UHRF1BP1: N101S
PubMed Link: 37024973
Variant Present in the following documents:
  • 13059_2023_2894_MOESM1_ESM.pdf
View BVdb publication page