Systematically Testing Human HMBS Missense Variants to Reveal Mechanism and Pathogenic Variation.
Warren van Loggerenberg,Shahin Sowlati-Hashjin,Jochen Weile,Rayna Hamilton,Aditya Chawla,Dayag Sheykhkarimli,Marinella Gebbia,Nishka Kishore,Laure Fresard,Sami Mustajoki,Elena Pischik,Elena Di Pierro,Michela Barbaro,Ylva Floderus,Caroline Schmitt, Laurent Gouya,Alexandre Colavin,Robert Nussbaum,Edith C. H. Friesema,Raili Kauppinen,Jordi To-Figueras,Aasne K. Aarsand,Robert J. Desnick,Michael Garton,Frederick P. Roth AMERICAN JOURNAL OF HUMAN GENETICS（2023）
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Inborn Errors of Metabolism
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