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Bi‐allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility

13 Apr 2023

Abstract excerpt

Oocyte maturation arrest is one of the important causes of female infertility, but the genetic factors remain largely unknown. PABPC1L, a predominant poly(A)-binding protein in Xenopus, mouse, and human oocytes and early embryos prior to zygotic genome activation, plays a key role in translational activation of maternal mRNAs. Here, we identified compound heterozygous and homozygous variants in PABPC1L that are...

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PMID: 37052235
DOI: 10.15252/emmm.202217177

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