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Explores pathogenicity of variants in ciliopathies using zebrafish, suggesting reliable genetic validation.
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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Aresi et al. (2026) studied this question.
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