GénOncoPGxBio
← Gene index

COL1A1

HGNC ↗

Osteogenesis imperfecta

1 article(s) in the watch · Constitutional genetics

Curated publications

7/10

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

Osteogenesis imperfecta

Gén.20 May 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗

Automatic aggregation page — a clinical introduction may be added.