http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA#head http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA#assertion http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA#provenance http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA#assertion http://rdf.disgenet.org/resource/gda/DGNc283c6ae8d62444408f10bef2ff2a4a8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5894 http://rdf.disgenet.org/resource/gda/DGNc283c6ae8d62444408f10bef2ff2a4a8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018784 http://rdf.disgenet.org/resource/gda/DGNc283c6ae8d62444408f10bef2ff2a4a8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA#provenance http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA#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/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20052757 http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://purl.org/dc/terms/created 2017-10-17T13:15:52+02:00 http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP893472.RAVKHt7YOrr4FQ7afCJ9Od-n5NIXt9_A2U-GG1TgjvyJA http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0