. . . . . . . . . . . . "[ The data have been used to build the Italian mutation database to provide each family with knowledge of the disease-causing defect for genetic counseling. This Italian study confirms the marked heterogeneity of factor IX mutations in the population and the presence of a degree of genotype/phenotype discordance. The identification of the mutation can also be used to predict risk of inhibitor development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2013-07-06"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:32:20+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .