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Bi‐allelic Mutation in SEC16B Alters Collagen Trafficking and Increases ER Stress

Ahmed El-Gazzar,Barbara Voraberger,Frank Rauch,Mario Mairhofer,Katy Schmidt,Brecht Guillemyn,Goran Mitulovic,Veronika Reiterer,Margot Haun, Michaela M. Mayr,Johannes A. Mayr,Susanne Kimeswenger,Oliver Drews,Vrinda Saraff,Nick Shaw,Nadja Fratzl-Zelman,Sofie Symoens,Hesso Farhan,Wolfgang Hoegler

EMBO MOLECULAR MEDICINE（2023）

Cited 6|Views51
Key words
autophagy,endoplasmic reticulum,osteogenesis imperfecta,SEC16B,type I collagen
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