http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_head http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_assertion http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_assertion http://identifiers.org/ncbigene/1528 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/C0266362 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/gene-disease-association.ttl#DGNfe4205f19fd66a4eadf4db2a49864ec2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1528 http://rdf.disgenet.org/gene-disease-association.ttl#DGNfe4205f19fd66a4eadf4db2a49864ec2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0266362 http://rdf.disgenet.org/gene-disease-association.ttl#DGNfe4205f19fd66a4eadf4db2a49864ec2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_assertion http://purl.org/dc/terms/description [It was found that the mutation of Lys83, Arg347 and Arg358 produced proteins that were deficient in their responsiveness to cytochrome b5, and the effect was most pronounced for the two arginine mutants (Arg347-->His and Arg358-->Gln) which have been found in male patients suffering from genital ambiguity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9601054 http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://purl.org/dc/terms/created 2014-10-02T12:38:18+02:00 http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP626857.RAhuZVLbaRnq6nR7AOrKmOwNde72pRS-QTjOdRktcvTuM http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0