http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_head http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_assertion http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_provenance http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_assertion http://identifiers.org/ncbigene/213 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/C0342185 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/DGNa944ac895d5f9f7e3342a652570a70ff http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/213 http://rdf.disgenet.org/resource/gda/DGNa944ac895d5f9f7e3342a652570a70ff http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0342185 http://rdf.disgenet.org/resource/gda/DGNa944ac895d5f9f7e3342a652570a70ff http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_provenance http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_assertion http://purl.org/dc/terms/description [The diagnosis of familial dysalbuminaemic hyperthyroxinaemia was confirmed by the detection of a guanine to adenine missense mutation in the second nucleotide of codon 218 of the gene encoding human serum albumin, showing that the mutation in this family is the same as that previously found in Caucasian populations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_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/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14660816 http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_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/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk http://purl.org/dc/terms/created 2016-05-13T12:44:57+02:00 http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk 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