Author

Akrivi Papachristopoulou

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Open access Sep 2026

Beyond Sequencing: Integrating MLPA Reveals Hidden Structural PKD2 Variants and Enhances Mutation Detection in a Highly Selected ADPKD Greek Cohort

The findings identify structural PKD2 variation as an under-recognized cause of genetically unresolved late-onset ADPKD and demonstrate that phenotype-guided incorporation of copy number analysis can overcome limitations of NGS alone.

Akrivi Papachristopoulou, Angeliki Margoni, A. Simoudis et al. · Medicina · 0 citations