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Novel splicing mutations in PATL2 and WEE2 cause oocyte degradation and fertilization failure.

Journal of assisted reproduction and genetics - 1 Dec 2024

Liu Zhenxing, Zhu Lixia, He Hui, Hou Meiqi, Jia Weimin, Jin Lei, Xi Qingsong, Zhang Xianqin

Abstract excerpt

PURPOSE: To determine the genetic cause of infertility in two unrelated families of female patients suffering from oocyte degeneration and fertilization failure. METHODS: Whole exome sequencing and Sanger sequencing were performed to identify the disease-causing genes of infertility in two unrelated female patients. Minigene experiments were conducted to confirm the effect of splice site mutations on mRNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39476306
DOI: 10.1007/s10815-024-03260-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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