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A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.

Clinical genetics - 1 Feb 2024

Kherraf Zine-Eddine, Barbotin Anne-Laure, Martinez Guillaume, Mazet Aurélien, Cazin Caroline, Coutton Charles, Arnoult Christophe, Thierry-Mieg Nicolas, Rives Nathalie, Rives-Feraille Aurélie, Ray Pierre F

Abstract excerpt

Motile cilia and flagella are closely related organelles structured around a highly conserved axoneme whose formation and maintenance involve proteins from hundreds of genes. Defects in many of these genes have been described to induce primary ciliary dyskinesia (PCD) mainly characterized by chronic respiratory infections, situs inversus and/or infertility. In men, cilia/flagella-related infertility is usually...

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PMID: 37950557
DOI: 10.1111/cge.14450

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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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A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.PMID 37950557Read ↗

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