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Article

Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies.

European journal of clinical investigation - 1 May 2026

Aresi Carla, Tonelli Francesca, Mazzotta Concetta, Serpieri Valentina, Masiero Cecilia, Torriani Camilla, Villani Simona, Valente Enza Maria, Forlino Antonella

Abstract excerpt

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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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42116549
DOI: 10.1111/eci.70220
PMCID: PMC13161512

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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