Autor: Hongjuan Nie
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Identification and functional characterization of a novel pathogenic COL1A1 splicing variant in a Chinese family with osteogenesis imperfecta
BackgroundOsteogenesis imperfecta (OI) is a hereditary disorder primarily caused by mutations in COL1A1 or COL1A2, leading to bone fragility and deformities. Although numerous pathogenic variants have been identified, novel mutations in specific popula…