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
COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report.
Dirani M et al.
Frontiers in Surgery, 2022
36338653 (PubMed )
Supplement: Table1.xlsx › Sup_tab1
Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family.
Wang X et al.
Genetics and Molecular Biology, 2015
A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.
Liu W et al.
Molecular Vision, 2007
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