Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies
Articolo
Data di Pubblicazione:
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.
Tipologia CRIS:
1.1 Articolo in rivista
Elenco autori:
Aresi, Carla; Tonelli, Francesca; Mazzotta, Concetta; Serpieri, Valentina; Masiero, Cecilia; Torriani, Camilla; Villani, Simona; Valente, Enza Maria; Forlino, Antonella
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