Pathogenic missense variation in PABPC1L/EPAB causes female infertility due to oocyte maturation arrest at the germinal vesicle stage.
Okutman O, Gürbüz AS, Büyük U, Real E, Leconte R, Chennen K, Mayer C, Muller J, Le May N, Viville S. J Assist Reprod Genet. 2024 Feb; 41(2):311-322. Epub 2024 Jan 5.