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Article

Identification of a novel splicing variant of thyroid hormone receptor interaction protein 13 (TRIP13) in female infertility characterized by oocyte maturation arrest.

Journal of assisted reproduction and genetics - 1 Oct 2024

Chen Jia, Liu Yuxin, Wu Xingwu, Zhang Yiwei, Huang Wen, Han Wenbo, Chen Ge, Xu Qiang, Chen Houyang, Wu Qiongfang, Wang Jiawei, Huang Jialyu

Abstract excerpt

PURPOSE: As a cause of primary female infertility, oocyte maturation arrest (OMA) is characterized by failure to obtain mature oocytes due to abnormal meiosis. We aimed to identify pathogenic variants in two sisters with OMA phenotype from a non-consanguineous family. METHODS: Whole-exome sequencing and Sanger sequencing were conducted to identify and validate the disease-causing gene variant. Additionally, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39297991
DOI: 10.1007/s10815-024-03219-1
PMCID: PMC11535116

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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