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Updated: Jul 21, 2025

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Cathepsin-C mutation in an individual with phenotypic features of Haim-Munk syndrome: a case report
Rebecca L McCarthy1,2, Dushyanth Gnanappiragasam3, Matthew Scorer3
1Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.
Clinical and Experimental Dermatology
|July 26, 2023
Abstract
No abstract available in PubMed .
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