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ArticleEuropean journal of human genetics : EJHG2026

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

Alistair T Pagnamenta et al.PubMed ↗Publisher ↗

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Full record →Abstract, authors, funding and every citing paper · PMID 42120541