http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs130_head http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs130_assertion http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs130_provenance http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs130_assertion http://identifiers.org/ncbigene/5894 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/C1328931 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/DGNc51c532ec8f5bd61862432b2181f17b4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5894 http://rdf.disgenet.org/resource/gda/DGNc51c532ec8f5bd61862432b2181f17b4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1328931 http://rdf.disgenet.org/resource/gda/DGNc51c532ec8f5bd61862432b2181f17b4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs130_provenance http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs130_assertion http://purl.org/dc/terms/description [Recently, mutations in RAF1 have been also identified in patients with NS and two patients with LEOPARD (multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs130_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/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20052757 http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs130_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/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs http://purl.org/dc/terms/created 2015-08-25T14:44:19+02:00 http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP664652.RAAVyiLrcRGDI2fXPR-Rl7NQ0icQlOG8S4dx5Qm6M2dUs 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