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Guillemyn, B. et al. (2019). A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. Human molecular genetics. pp. 1801-1809. [Online].
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Guillemyn, B. et al. (2019). A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. Human molecular genetics. pp. 1801-1809. [Online].