@misc{misc, title = {{Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort}}, url = {{https://doi.org/10.1101/2025.10.22.25338523 }}, year = {{2025}}, month = {{10}}, author = {{Pagnamenta AT and Fasham J and Beaumont RN and Baker D and Hall T and Baple EL and Balasubramanian M and Jackson L and Wright CF}}, doi = {{10.1101/2025.10.22.25338523}}, note = {{Accessed on 2025/12/15}}}