Case report
Open access
Jan 2026
A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta
A systematic review of COL1A1 splicing variants and the corresponding genotype–phenotype spectrum revealed a correlation among splicing variants, C‐terminal region variants and disease, suggesting that variant location provides a useful framework for prognosis prediction.
Yu-Jun Zhang, Huibing Liu, Ai-lan Yin et al.
· Human Mutation · 0 citations