Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort
Alistair T. Pagnamenta, James Fasham, Robin N. Beaumont…·Caroline Fiona Wright
The paper analyzes genome sequencing data from UK Biobank to assess the penetrance of COL1A1/2 pathogenic variants in OI, finding lower penetrance than expected.