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ab179811 has been referenced in 2 publications.
- Guillemyn B et al. A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. Hum Mol Genet N/A:N/A (2019). PubMed: 30657919
- Keller RB et al. Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. Genet Med 20:411-419 (2018). WB . PubMed: 28817112