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Identification of novel compound heterozygous ZFP36L2 variants implicated in oocyte maturation defects and female infertility.

Xian WanHuiling HuJiaqi SunFei MengFei GongGe LinHongqing LiaoWei Zheng
Published in: Journal of assisted reproduction and genetics (2024)
This study broadens the mutation spectrum of ZFP36L2 and constitutes the first report of human oocyte transcriptome alterations linked to ZFP36L2 variants. In conjunction with existing knowledge of ZFP36L2, our research lays the groundwork for genetic counseling aimed at addressing female infertility.
Keyphrases
  • copy number
  • genome wide
  • endothelial cells
  • healthcare
  • polycystic ovary syndrome
  • early onset
  • type diabetes
  • rna seq
  • induced pluripotent stem cells
  • smoking cessation
  • pluripotent stem cells