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Article

Identification of novel compound heterozygous ZFP36L2 variants implicated in oocyte maturation defects and female infertility.

Journal of assisted reproduction and genetics - 1 Aug 2024

Wan Xian, Hu Huiling, Sun Jiaqi, Meng Fei, Gong Fei, Lin Ge, Liao Hongqing, Zheng Wei

Abstract excerpt

PURPOSE: To explore the pathogenesis of oocyte maturation defects. METHODS: Whole exome sequencing was conducted to identify potential variants, which were then confirmed within the pedigree through Sanger sequencing. The functional characterization of the identified variants responsible for the disease, including their subcellular localization, protein levels, and interactions with other proteins, was verified...

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Identifiers

PMID: 38829516
DOI: 10.1007/s10815-024-03154-1
PMCID: PMC11339011

Provenance

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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