@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:NP802828.RA9K5qJz5IYAOpeWdJ-5Oy34eQ2mfyPw-JYWFQtwmwPww130_head { this: np:hasAssertion dgn-np:NP802828.RA9K5qJz5IYAOpeWdJ-5Oy34eQ2mfyPw-JYWFQtwmwPww130_assertion; np:hasProvenance dgn-np:NP802828.RA9K5qJz5IYAOpeWdJ-5Oy34eQ2mfyPw-JYWFQtwmwPww130_provenance; np:hasPublicationInfo dgn-np:NP802828.RA9K5qJz5IYAOpeWdJ-5Oy34eQ2mfyPw-JYWFQtwmwPww130_publicationInfo; a np:Nanopublication . dgn-np:NP802828.RA9K5qJz5IYAOpeWdJ-5Oy34eQ2mfyPw-JYWFQtwmwPww130_assertion a np:Assertion . dgn-np:NP802828.RA9K5qJz5IYAOpeWdJ-5Oy34eQ2mfyPw-JYWFQtwmwPww130_provenance a np:Provenance . dgn-np:NP802828.RA9K5qJz5IYAOpeWdJ-5Oy34eQ2mfyPw-JYWFQtwmwPww130_publicationInfo a np:PublicationInfo . } dgn-np:NP802828.RA9K5qJz5IYAOpeWdJ-5Oy34eQ2mfyPw-JYWFQtwmwPww130_assertion { miriam-gene:25996 a ncit:C16612 . lld:C3276706 a ncit:C7057 . dgn-gda:DGN41ccbe1f5216db7834df367d02386216 sio:SIO_000628 miriam-gene:25996, lld:C3276706; a sio:SIO_001121 . } dgn-np:NP802828.RA9K5qJz5IYAOpeWdJ-5Oy34eQ2mfyPw-JYWFQtwmwPww130_provenance { dgn-np:NP802828.RA9K5qJz5IYAOpeWdJ-5Oy34eQ2mfyPw-JYWFQtwmwPww130_assertion dcterms:description "[SFN presents a clinical picture dominated by neuropathic pain and autonomic symptoms; gain-of-function variants have been reported to be present in approximately 30% of patients with biopsy-confirmed idiopathic SFN, and functional testing has shown altered fast-inactivation, slow-inactivation or resurgent current.]. 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:22136189; 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:NP802828.RA9K5qJz5IYAOpeWdJ-5Oy34eQ2mfyPw-JYWFQtwmwPww130_publicationInfo { this: dcterms:created "2014-10-02T12:40:12+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" . }