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Germline C1GALT1C1 Mutation Causes a Multisystem Chaperonopathy.

Florian Erger,Rajindra P. Aryal,Bjoern Reusch,Yasuyuki Matsumoto,Robert Meyer,Junwei Zeng,Cordula Knopp,Maxence Noel,Lukas Muerner,Andrea Wenzel,Stefan Kohl,Nikolai Tschernoster,Gunter Rappl,Isabelle Rouvet,Jutta Schroeder-Braunstein,Felix S. Seibert,Holger Thiele,Martin G. Haeusler,Lutz T. Weber,Maike Buettner-Herold,Miriam Elbracht,Sandra F. Cummings,Janine Altmueller,Sandra Habbig,Richard D. Cummings,Bodo B. Beck

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA（2023）

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关键词
Cosmc,COSMC-CDG,O-glycosylation,Tn-antigen
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