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. |
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| 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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