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Article

Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.

Journal of ovarian research - 15 Feb 2023

Luo Wei, Ke Hanni, Tang Shuyan, Jiao Xue, Li Zhuqing, Zhao Shidou, Zhang Feng, Guo Ting, Qin Yingying

Abstract excerpt

BACKGROUND: Premature ovarian insufficiency refers to the loss of ovarian function before 40 years of age. The etiology is heterogeneous, and genetic factors account for 20-25% of cases. However, how to transform genetic findings to clinical molecular diagnose remains a challenge. To identify potential causative variations for POI, a next generation sequencing panel with 28 known causative genes of POI was...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Menopause, Premature

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Source

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Identifiers

PMID: 36793102
DOI: 10.1186/s13048-023-01104-6
PMCID: PMC9930292

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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