@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:NP1407201.RAlIBjUSjulc_p1IFZm2rUTAZzrPQeRD54D9FUmTvRiDA130_head { this: np:hasAssertion dgn-np:NP1407201.RAlIBjUSjulc_p1IFZm2rUTAZzrPQeRD54D9FUmTvRiDA130_assertion; np:hasProvenance dgn-np:NP1407201.RAlIBjUSjulc_p1IFZm2rUTAZzrPQeRD54D9FUmTvRiDA130_provenance; np:hasPublicationInfo dgn-np:NP1407201.RAlIBjUSjulc_p1IFZm2rUTAZzrPQeRD54D9FUmTvRiDA130_publicationInfo; a np:Nanopublication . dgn-np:NP1407201.RAlIBjUSjulc_p1IFZm2rUTAZzrPQeRD54D9FUmTvRiDA130_assertion a np:Assertion . dgn-np:NP1407201.RAlIBjUSjulc_p1IFZm2rUTAZzrPQeRD54D9FUmTvRiDA130_provenance a np:Provenance . dgn-np:NP1407201.RAlIBjUSjulc_p1IFZm2rUTAZzrPQeRD54D9FUmTvRiDA130_publicationInfo a np:PublicationInfo . } dgn-np:NP1407201.RAlIBjUSjulc_p1IFZm2rUTAZzrPQeRD54D9FUmTvRiDA130_assertion { miriam-gene:6647 a ncit:C16612 . lld:C1862939 a ncit:C7057 . dgn-gda:DGNc03a86f677728c953a1fca8db7b29f19 sio:SIO_000628 miriam-gene:6647, lld:C1862939; a sio:SIO_001122 . } dgn-np:NP1407201.RAlIBjUSjulc_p1IFZm2rUTAZzrPQeRD54D9FUmTvRiDA130_provenance { dgn-np:NP1407201.RAlIBjUSjulc_p1IFZm2rUTAZzrPQeRD54D9FUmTvRiDA130_assertion dcterms:description "[The Gly93-->Ala mutation in the Cu,Zn superoxide dismutase (Cu,Zn-SOD) gene (SOD1) found in some familial amyotrophic lateral sclerosis (FALS) patients has been shown to result in an aberrant increase in hydroxyl radical production by the mutant enzyme that may cause oxidative injury to spinal motor neurons.]. 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:9798929; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1407201.RAlIBjUSjulc_p1IFZm2rUTAZzrPQeRD54D9FUmTvRiDA130_publicationInfo { this: dcterms:created "2016-05-13T12:52:24+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }