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Article

Novel variants in women with premature ovarian function decline identified via whole-exome sequencing.

Journal of assisted reproduction and genetics - 1 Oct 2020

Tang Ruiyi, Yu Qi

Abstract excerpt

PURPOSE: To investigate the potential etiologies of premature ovarian insufficiency (POI) and diminished ovarian reserve (DOR). METHODS: Fourteen women with sporadic POI and 6 women with DOR were enrolled. We used whole-exome sequencing (WES) and bioinformatics analysis to identify variants in a subset of 599 selected POI candidate genes. The identified genes were subjected to gene ontology (GO) and Kyoto...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32789750
DOI: 10.1007/s10815-020-01919-y
PMCID: PMC7550486

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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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