Bi-allelic pathogenic variants in PABPC1L cause oocyte maturation arrest and female infertility.
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DOI: 10.15252/emmm.202217177
Abstract: 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… read more here.
Keywords: maturation; variants pabpc1l; maturation arrest; oocyte maturation ... See more keywords