@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP356975.RAbH6QoX4HQd4RLwl7_m6INyR73_IWprqPCjPa3SPpecg130_head { this: np:hasAssertion dgn-np:NP356975.RAbH6QoX4HQd4RLwl7_m6INyR73_IWprqPCjPa3SPpecg130_assertion; np:hasProvenance dgn-np:NP356975.RAbH6QoX4HQd4RLwl7_m6INyR73_IWprqPCjPa3SPpecg130_provenance; np:hasPublicationInfo dgn-np:NP356975.RAbH6QoX4HQd4RLwl7_m6INyR73_IWprqPCjPa3SPpecg130_publicationInfo; a np:Nanopublication . dgn-np:NP356975.RAbH6QoX4HQd4RLwl7_m6INyR73_IWprqPCjPa3SPpecg130_assertion a np:Assertion . dgn-np:NP356975.RAbH6QoX4HQd4RLwl7_m6INyR73_IWprqPCjPa3SPpecg130_provenance a np:Provenance . dgn-np:NP356975.RAbH6QoX4HQd4RLwl7_m6INyR73_IWprqPCjPa3SPpecg130_publicationInfo a np:PublicationInfo . } dgn-np:NP356975.RAbH6QoX4HQd4RLwl7_m6INyR73_IWprqPCjPa3SPpecg130_assertion { miriam-gene:22882 a ncit:C16612 . lld:C0028326 a ncit:C7057 . dgn-gda:DGN71972333f8d14340a9b6a02d688fd1c0 sio:SIO_000628 miriam-gene:22882, lld:C0028326; a sio:SIO_001121 . } dgn-np:NP356975.RAbH6QoX4HQd4RLwl7_m6INyR73_IWprqPCjPa3SPpecg130_provenance { dgn-np:NP356975.RAbH6QoX4HQd4RLwl7_m6INyR73_IWprqPCjPa3SPpecg130_assertion dcterms:description "[Germline mutations in several members of RAS/RAF/MEK/ERK pathway cause clinically similar genetic disorders, including Noonan syndrome (NS), Costello syndrome (CS) and cardio-facio-cutaneous syndrome (CFC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:20030748; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP356975.RAbH6QoX4HQd4RLwl7_m6INyR73_IWprqPCjPa3SPpecg130_publicationInfo { this: dcterms:created "2014-10-02T12:35:29+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }