@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:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_head { this: np:hasAssertion dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_assertion; np:hasProvenance dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_provenance; np:hasPublicationInfo dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_publicationInfo; a np:Nanopublication . dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_assertion a np:Assertion . dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_provenance a np:Provenance . dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_publicationInfo a np:PublicationInfo . } dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_assertion { miriam-gene:54949 a ncit:C16612 . lld:C1333944 a ncit:C7057 . dgn-gda:DGN605d60387f39a6b703c0cc6ddfc330d1 sio:SIO_000628 miriam-gene:54949, lld:C1333944; a sio:SIO_001121 . } dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_provenance { dgn-np:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_assertion dcterms:description "[We conclude that SDHAF2 mutation analysis is justified in very young patients with isolated head and neck paraganglioma without mutations in SDHD, SDHC, or SDHB, and in individuals with familial antecedents who are negative for mutations in all other risk genes.]. 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:20071235; 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:NP821032.RA993aRvCsaPyqeEAC8o7DVN3qDXWS1nxdWA93brDLk3k130_publicationInfo { this: dcterms:created "2014-10-02T12:40:23+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" . }