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Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the <i>UNC45A</i> c.710T>C variant in osteo-oto-hepato-enteric syndrome

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Main Authors: Waich, Stephanie (Author) , Kreidl, Karin (Author) , Vodopiutz, Julia (Author) , Demir, Arzu Meltem (Author) , Pollio, Adam R. (Author) , Dostál, Vojtěch (Author) , Pfaller, Kristian (Author) , Parlato, Marianna (Author) , Cerf-Bensussan, Nadine (Author) , Adam, Rüdiger (Author) , Vogel, Georg F. (Author) , Uhlig, Holm H. (Author) , Ruemmele, Frank M. (Author) , Müller, Thomas (Author) , Hess, Michael W. (Author) , Janecke, Andreas R. (Author) , Huber, Lukas A. (Author) , Valovka, Taras (Author)
Format: Article (Journal)
Language:English
Published: March 24, 2025
In: JCI insight
Year: 2025, Volume: 10, Issue: 6, Pages: 1-22
ISSN:2379-3708
DOI:10.1172/jci.insight.185508
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1172/jci.insight.185508
Verlag, kostenfrei, Volltext: https://insight.jci.org/articles/view/185508
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Author Notes:Stephanie Waich, Karin Kreidl, Julia Vodopiutz, Arzu Meltem Demir, Adam R. Pollio, Vojtěch Dostál, Kristian Pfaller, Marianna Parlato, Nadine Cerf-Bensussan, Rüdiger Adam, Georg F. Vogel, Holm H. Uhlig, Frank M. Ruemmele, Thomas Müller, Michael W. Hess, Andreas R. Janecke, Lukas A. Huber, Taras Valovka

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