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Large expert-curated database for benchmarking document similarity detection in biomedical literature search
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Clinical utility gene card for: osteogenesis imperfecta
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EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta
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Substitution of glycine-661 by serine in the α1(I) and α2(I) chains of type I collagen results in different clinical and biochemical phenotypes
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Substitution of glycine-172 by arginine in the α1 chain of type I collagen in a patient with osteogenesis imperfecta, type III