@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:NP710210.RA_GiRKf-tE9K-_z3tD4P7ivPyZaXefm0_XpPWFuWA2Mo130_head { this: np:hasAssertion dgn-np:NP710210.RA_GiRKf-tE9K-_z3tD4P7ivPyZaXefm0_XpPWFuWA2Mo130_assertion; np:hasProvenance dgn-np:NP710210.RA_GiRKf-tE9K-_z3tD4P7ivPyZaXefm0_XpPWFuWA2Mo130_provenance; np:hasPublicationInfo dgn-np:NP710210.RA_GiRKf-tE9K-_z3tD4P7ivPyZaXefm0_XpPWFuWA2Mo130_publicationInfo; a np:Nanopublication . dgn-np:NP710210.RA_GiRKf-tE9K-_z3tD4P7ivPyZaXefm0_XpPWFuWA2Mo130_assertion a np:Assertion . dgn-np:NP710210.RA_GiRKf-tE9K-_z3tD4P7ivPyZaXefm0_XpPWFuWA2Mo130_provenance a np:Provenance . dgn-np:NP710210.RA_GiRKf-tE9K-_z3tD4P7ivPyZaXefm0_XpPWFuWA2Mo130_publicationInfo a np:PublicationInfo . } dgn-np:NP710210.RA_GiRKf-tE9K-_z3tD4P7ivPyZaXefm0_XpPWFuWA2Mo130_assertion { miriam-gene:6687 a ncit:C16612 . lld:C1850303 a ncit:C7057 . dgn-gda:DGN976cde3f5b1efb2a83a4eb9ee024ee6f sio:SIO_000628 miriam-gene:6687, lld:C1850303; a sio:SIO_001121 . } dgn-np:NP710210.RA_GiRKf-tE9K-_z3tD4P7ivPyZaXefm0_XpPWFuWA2Mo130_provenance { dgn-np:NP710210.RA_GiRKf-tE9K-_z3tD4P7ivPyZaXefm0_XpPWFuWA2Mo130_assertion dcterms:description "[These studies increase our understanding of the molecular pathogenesis of SPG7 mutations and suggest that SPG7 testing should be included in the diagnostic workup of autosomal recessive, progressive external ophthalmoplegia, especially if spasticity is present.]. 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:24466038; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP710210.RA_GiRKf-tE9K-_z3tD4P7ivPyZaXefm0_XpPWFuWA2Mo130_publicationInfo { this: dcterms:created "2015-08-25T14:44:48+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }