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    Identification of a PATL2 missense variant (c.877G>T) disrupting canonical splicing and contributing to female infertility

    Identification of a PATL2 missense variant (c.877G>T) disrupting canonical splicing and contributing to female infertility by Hongyan Li, Yue Lin, Weixu Ma, Ting Yu, Lingfeng Dong, Yankun Chen, Shuming Fan, Guoqun Luo, Jingwen Zhang, Ge Song

    Published 2025-07-01

    BackgroundPATL2 deficiency is a significant cause of female infertility. Although multiple PATL2 missense variants have been reported in prior studies, a number of these variants remain classified as variants of uncertain significance (VUS).MethodsWe present a patient of primary infertility characte...

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