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Gang Wang, Email: wgneuron@hotmail.com
Ru-Jing Ren, Email: doctorren2001@126.com
QH, Y-BH, Y-FZ, R-JR, and GW designed the study. Y-BH, X-YX, RT, and R-JR performed the whole-genome sequencing-related work and clinical diagnosis. QH, Y-BH, Y-FZ, L-JL J-PL, J-TW, and X-QC performed the experiments and collected the data. QH, Y-BH, Y-FZ, ED, and GW analyzed the data. QH and GW wrote the manuscript. All authors contributed to the article and approved the submitted version.
We would like to thank the support from patient and her family for the innovation of modern science, Bio-Electron Microscopy Facility of Shanghai Tech University for their cryo-EM technical support, guidance on data visualization from Song Qingxiang in the Department of Pharmacology and Chemical Biology, Shanghai Jiao Tong University School of Medicine, and Quan Wang at the iHuman Institute, Shanghai Tech University for his critical reading.
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
This work was supported by grants from the National Natural Science Foundation of China (81971068 and 81801045), Natural Science Foundation of Shanghai (19ZR1431500), and Shanghai “Rising Stars of Medical Talent” Youth Development Program-Outstanding Youth Medical Talents (2018).
© 2022 Huang, Zhang, Li, Dammer, Hu, Xie, Tang, Li, Wang, Che, Wang and Ren.