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Published in 2023 at "EMBO Molecular Medicine"
DOI: 10.15252/emmm.202216834
Abstract: Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder characterized by bone fragility and reduced bone mass generally caused by defects in type I collagen structure or defects in proteins interacting with collagen processing.…
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Keywords:
collagen trafficking;
allelic mutation;
sec16b alters;
mutation sec16b ... See more keywords