@misc{indiciae8d392c17e75a, title = {A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.}, author = {Yujun Zhang and Huibing Liu and Ailan Yin and Siping Liu and Wanfei Huang and Yi Zhang and Bei Jia}, year = {2026}, doi = {10.1155/humu/2249583}, url = {https://pubmed.ncbi.nlm.nih.gov/42620875/}, note = {Source identifier: 42620875} }