Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHumansFemaleAdultMutationMissense
[Analysis of a case with oocyte maturation disorder caused by a heterozygous c.728C>T (p.P243L) missense variant of TUBB8 gene and literature review].
Wei Jiang, Yali Ni, Jinwei Yang, Bo Yan, Chuan Zhang, Zhiqiang Wang
Published: 202510.3760/cma.j.cn511374-20241023-00553
Abstract
OBJECTIVE: To explore the genetic basis for a woman with oocyte maturation disorder during assisted reproductive treatment (ART), and to verify the source of the variant and its impact on oocyte maturation through family verification. METHODS: A 35-y…
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