Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort.
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| Title: | Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort. |
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| Authors: | Pagnamenta AT; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Fasham J; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Beaumont RN; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Baker D; Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Keigwin S; Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Hall T; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Baple EL; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.; Department of Clinical Genetics, Royal Devon University Hospital, Exeter, UK., Balasubramanian M; Division of Clinical Medicine, University of Sheffield, Sheffield, UK.; Highly Specialised Severe, Complex and Atypical OI Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Jackson L; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK., Wright CF; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK. caroline.wright@exeter.ac.uk. |
| Source: | European journal of human genetics : EJHG [Eur J Hum Genet] 2026 May 12. Date of Electronic Publication: 2026 May 12. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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