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Erger, Florian; Aryal, Rajindra P; Reusch, Björn; Matsumoto, Yasuyuki; Meyer, Robert; Zeng, Junwei; Knopp, Cordula; Noel, Maxence; Muerner, Lukas; Wenzel, Andrea; Kohl, Stefan; Tschernoster, Nikolai; Rappl, Gunter; Rouvet, Isabelle; Schröder-Braunstein, Jutta; Seibert, Felix S; Thiele, Holger; Häusler, Martin G; Weber, Lutz T; Büttner-Herold, Maike; ... (2023). Germline C1GALT1C1 mutation causes a multisystem chaperonopathy. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 120(22), e2211087120. National Academy of Sciences 10.1073/pnas.2211087120
