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    • LORD: a phenotype-genotype semantically integrated biomedical data tool to support rare disease diagnosis coding in health information systems

    • Remy Choquet $lastName ;
    • Meriem Maaroufi $lastName ;
    • Yannick Fonjallaz $lastName ;
    • Albane De Carrara $lastName ;
    • Pierre-Yves Vandenbussche $lastName ;
    • Ferdinand Dhombres $lastName ;
    • Paul Landais $lastName

    LORD: a phenotype-genotype semantically integrated biomedical data tool to support rare disease diagnosis coding in health information systems


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