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Article

A novel homozygous C-terminal deletion in BTG4 causes zygotic cleavage failure and female infertility.

Journal of assisted reproduction and genetics - 1 Jan 2023

Wang Yufeng, Qin Qingtao, Yang Yang, Dong Shan, Liu Yuting, Wang Molin, Zou Yongxin, Gong Yaoqin, Zhou Haibin, Jiang Baichun

Abstract excerpt

PURPOSE: We aimed to identify pathogenic variants in a female patient with primary infertility and recurrent failure of in vitro fertilization with zygotic cleavage failure. METHODS: The genomic DNA from the affected individual was subjected to whole-exome sequencing and the variant was confirmed by Sanger sequencing. The functional effect of the identified variant was further investigated in 293 T cells....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36471203
DOI: 10.1007/s10815-022-02664-0
PMCID: PMC9840730

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