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Updated: May 13, 2026
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In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in
Carla Aresi1, Francesca Tonelli1, Concetta Mazzotta2
1Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy.
European Journal of Clinical Investigation
|May 12, 2026
Abstract:
A zebrafish morpholino knockdown model targeting ahi1 enables efficient phenotypic assessment of ciliopathy-related defects and functional evaluation of variants of uncertain significance. This assay clarifies the impact of VUSs, supporting zebrafish morphants as a reliable platform for validating ciliopathy-associated genetic variants.
