Peer-reviewed veterinary case report
Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies.
- Journal:
- European journal of clinical investigation
- Year:
- 2026
- Authors:
- Aresi, Carla et al.
- Affiliation:
- Department of Molecular Medicine · Italy
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.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/42116549/