February 05, 2026 article Open access Identification and functional characterization of a novel pathogenic COL1A1 splicing variant in a Chinese family with osteogenesis imperfecta Frontiers in Genetics DOI: 10.3389/fgene.2026.1758799 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 0 stored of 0 References 1 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II 2024 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access 2 citations 1 result