Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger, Florian, Rajindra P Aryal, Björn Reusch, Yasuyuki Matsumoto, Robert Meyer, Junwei Zeng, Cordula Knopp, et al. 2023. “Germline C1GALT1C1 Mutation Causes a Multisystem Chaperonopathy.”. Proceedings of the National Academy of Sciences of the United States of America 120 (22): e2211087120.