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Case Report: Biallelic PADI6 frameshift variants contribute to preimplantation embryonic lethality
Abstract Objectives: Preimplantation embryonic lethality (PREMBL) is a major cause of female infertility, characterized by early embryonic arrest. Homozygous or compound heterozygous mutations in PADI6 underlie preimplantation embryonic lethality-2 (PREMBL2). This study aims to conduct a systematic genetic investigation on a case with PADI6 biallelic variants.
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