Associated Papers
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.
Sirchia F et al.
Pediatric Neurology, 2026
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
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
Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen.
Schleit J et al.
Human Mutation, 2015
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