http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so130_head http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so130_assertion http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so130_provenance http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so130_assertion http://identifiers.org/ncbigene/475 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/C0022716 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/DGNf5178f664e97360a7a1c19bd26cf1e96 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/475 http://rdf.disgenet.org/resource/gda/DGNf5178f664e97360a7a1c19bd26cf1e96 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0022716 http://rdf.disgenet.org/resource/gda/DGNf5178f664e97360a7a1c19bd26cf1e96 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so130_provenance http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so130_assertion http://purl.org/dc/terms/description [We screened for ATOX1 mutations in two patients with classical Menkes disease phenotypes and one individual with occipital horn syndrome who had no alterations detected in ATP7A, as well as an adult female with chronic anemia, low serum copper and evidence of mild dopamine-beta-hydroxylase deficiency and no alterations in the ATOX1 coding or splice junction sequences were found.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12594858 http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://purl.org/dc/terms/created 2015-08-25T14:40:05+02:00 http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP256001.RA7aHP61ckALwhaxK1aucGIS1OCjWCmudcEUfcy5016so http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0