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Article

Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?

Gene - 15 Nov 2024

Jordan Pénélope, Verebi Camille, Hervé Bérénice, Perol Sandrine, Bernard Valérie, Karila Daphné, Jali Eva, Brac de la Perrière Aude, Grouthier Virginie, Jonard-Catteau Sophie, Touraine Philippe, Fouveaut Corinne, Plu-Bureau Geneviève, Michel Dupont Jean, Bachelot Anne, Christin-Maitre Sophie, Bienvenu Thierry

Abstract excerpt

BACKGROUND: Primary ovarian insufficiency (POI) affects around 2-4% of women before the age of 40. Genetic factors play an important role in POI. The GDF9 gene has been identified as a significant genetic contributor of POI. However, the pathogenicity and penetrance of GDF9 variants remain uncertain. METHODS: A next-generation sequencing approach was employed to investigate the entire coding region of the GDF9...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38942181
DOI: 10.1016/j.gene.2024.148734

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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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