Associated Papers
A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review.
He D et al.
Human Genomics, 2025
40887625 (PubMed )
Supplement: 40246_2025_816_MOESM2_ESM.xlsx › Sheet1
Splice‑site variant c.3531+1G>T in COL1A1 in a family with osteogenesis imperfecta.
Huang Y et al.
Molecular Medicine Reports, 2025
Select a paper to view details