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- [45] Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta Calcified Tissue International, 2018, 102 : 373 - 379
- [50] Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I INJURY-INTERNATIONAL JOURNAL OF THE CARE OF THE INJURED, 2019, 50 (12): : 2215 - 2219