Autor: Alistair T. Pagnamenta
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Reduced penetrance of <i>COL1A1/2</i> pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort
European Journal of Human Genetics, Published online: 12 May 2026; doi:10.1038/s41431-026-02118-6Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort