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Article

A novel homozygous missense variant in BTG4 causes zygotic cleavage failure and female infertility.

Journal of assisted reproduction and genetics - 1 Dec 2021

Liu Ruyi, Zhou Yifan, Li Qiaoli, Chen Biaobang, Zhou Zhou, Wang Lan, Wang Lei, Sang Qing, Jin Lei

Abstract excerpt

PURPOSE: "Zygotic cleavage failure" is an embryonic phenotype that causes female infertility and failure of in vitro fertilization and/or intracytoplasmic sperm injection. We aimed to identify pathogenic variants in a female infertility patient from a consanguineous family with the "zygotic cleavage failure" phenotype. METHODS: Whole-exome sequencing was performed in the affected patient; Sanger sequencing was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34647228
DOI: 10.1007/s10815-021-02340-9
PMCID: PMC8666407

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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