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收藏Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
Simsek-Kiper, Pelin Ozlem; Jacob, Prince; Upadhyai, Priyanka; Taskiran, Zihni Ekim; Guleria, Vishal S.; Karaosmanoglu, Beren; Imren, Gozde; Gocmen, Rahsan; Bhavani, Gandham S.; Kausthubham, Neethukrishna; Shah, Hitesh; Utine, Gulen Eda; Boduroglu, Koray; Girisha, Katta M.
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收藏GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans
Yao, Yikun; Jiang, Ping Du; Chao, Brittany N.; Cagdas, Deniz; Kubo, Satoshi; Balasubramaniyam, Arasu; Zhang, Yu; Shadur, Bella; NaserEddin, Adeeb; Folio, Les R.; Schwarz, Benjamin; Bohrnsen, Eric; Zheng, Lixin; Lynberg, Matthew; Gottlieb, Simone; Leney-Greene, Michael A.; Park, Ann Y.; Tezcan, Ilhan; Akdogan, Ali; Gocmen, Rahsan; Onder, Sevgen; Rosenberg, Avi; Soilleux, Elizabeth J.; Johnson, Errin; Jackson, Peter K.; Demeter, Janos; Chauvin, Samuel D.; Paul, Florian; Selbach, Matthias; Bulut, Haydar; Clatworthy, Menna R.; Tuong, Zewen K.; Zhang, Hanlin; Stewart, Benjamin J.; Bosio, Catharine M.; Stepensky, Polina; Clare, Simon; Ganesan, Sundar; Pascall, John C.; Daumke, Oliver; Butcher, Geoffrey W.; McMichael, Andrew J.; Simon, Anna Katharina; Lenardo, Michael J.
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