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

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Title: Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies.
Authors: Aresi C; Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy., Tonelli F; Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy., Mazzotta C; Department of Molecular Medicine, General Biology and Medical Genetics Unit, University of Pavia, Pavia, Italy., Serpieri V; Department of Molecular Medicine, General Biology and Medical Genetics Unit, University of Pavia, Pavia, Italy., Masiero C; Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy., Torriani C; Department of Public Health and Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia, Italy., Villani S; Department of Public Health and Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia, Italy., Valente EM; Department of Molecular Medicine, General Biology and Medical Genetics Unit, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Forlino A; Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy.; Research Pyramid Program, IRCCS Policlinico San Matteo, Pavia, Italy.
Source: European journal of clinical investigation [Eur J Clin Invest] 2026 May; Vol. 56 (5), pp. e70220.
Publication Type: Journal Article
Journal Info: Publisher: Wiley Country of Publication: England NLM ID: 0245331 Publication Model: Print Cited Medium: Internet ISSN: 1365-2362 (Electronic) Linking ISSN: 00142972 NLM ISO Abbreviation: Eur J Clin Invest Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Aresi+C%22">Aresi C</searchLink>; Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Tonelli+F%22">Tonelli F</searchLink>; Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Mazzotta+C%22">Mazzotta C</searchLink>; Department of Molecular Medicine, General Biology and Medical Genetics Unit, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Serpieri+V%22">Serpieri V</searchLink>; Department of Molecular Medicine, General Biology and Medical Genetics Unit, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Masiero+C%22">Masiero C</searchLink>; Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Torriani+C%22">Torriani C</searchLink>; Department of Public Health and Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Villani+S%22">Villani S</searchLink>; Department of Public Health and Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Valente+EM%22">Valente EM</searchLink>; Department of Molecular Medicine, General Biology and Medical Genetics Unit, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Forlino+A%22">Forlino A</searchLink>; Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy.; Research Pyramid Program, IRCCS Policlinico San Matteo, Pavia, Italy.
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      – TitleFull: Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies.
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              Text: 2026 May
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