http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_head http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_assertion http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_provenance http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_assertion http://identifiers.org/ncbigene/875 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0019880 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN7e688b9d2d7d73946d9345f5fd47dffe http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/875 http://rdf.disgenet.org/resource/gda/DGN7e688b9d2d7d73946d9345f5fd47dffe http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0019880 http://rdf.disgenet.org/resource/gda/DGN7e688b9d2d7d73946d9345f5fd47dffe http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_provenance http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_assertion http://purl.org/dc/terms/description [We conclude that fibroblast levels of CBS are only partially effective as prognosticators of disease severity and that it is important to test the in vivo response to vitamin B6 in all cases of homocystinuria, including those in which the mutations lead to the absence of the enzyme in cultured fibroblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7981678 http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://purl.org/dc/terms/created 2016-05-13T12:51:48+02:00 http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1329022.RAQr58xkYtHFrYe7F1AeX1zxNAT1FHEU2pAtSXx7FlJO0 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0