COL1A1

Osteogenesis imperfecta

2 article(s) in the watch · Constitutional genetics

Curated publications

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.

Osteogenesis imperfecta

Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.

Osteogenesis imperfecta

Automatic aggregation page — a clinical introduction may be added.