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
Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta.
Zhytnik L et al.
Clinical and Translational Science, 2020
COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients.
Zhytnik L et al.
Frontiers in Genetics, 2019
Select a paper to view details