http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_head http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_assertion http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_provenance http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_assertion http://identifiers.org/ncbigene/4094 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/C0266544 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#DGN43b481aa57f1f507854b52533665f714 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4094 http://rdf.disgenet.org/gene-disease-association.ttl#DGN43b481aa57f1f507854b52533665f714 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0266544 http://rdf.disgenet.org/gene-disease-association.ttl#DGN43b481aa57f1f507854b52533665f714 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_provenance http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_assertion http://purl.org/dc/terms/description [The MAF mutation p.Arg299Ser is the third mutation identified in association with the CCMC phenotype, and all three mutations are located in the basic region of the DNA binding domain in the MAF protein (OMIM 177075).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_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#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17982426 http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_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#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_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#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s http://purl.org/dc/terms/created 2014-10-02T12:34:28+02:00 http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s 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