@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:NP728591.RA4qNRiNocwpIAxK4XheiZRLkPya2DRTmpq53pt1qLTLE130_head { this: np:hasAssertion dgn-np:NP728591.RA4qNRiNocwpIAxK4XheiZRLkPya2DRTmpq53pt1qLTLE130_assertion; np:hasProvenance dgn-np:NP728591.RA4qNRiNocwpIAxK4XheiZRLkPya2DRTmpq53pt1qLTLE130_provenance; np:hasPublicationInfo dgn-np:NP728591.RA4qNRiNocwpIAxK4XheiZRLkPya2DRTmpq53pt1qLTLE130_publicationInfo; a np:Nanopublication . dgn-np:NP728591.RA4qNRiNocwpIAxK4XheiZRLkPya2DRTmpq53pt1qLTLE130_assertion a np:Assertion . dgn-np:NP728591.RA4qNRiNocwpIAxK4XheiZRLkPya2DRTmpq53pt1qLTLE130_provenance a np:Provenance . dgn-np:NP728591.RA4qNRiNocwpIAxK4XheiZRLkPya2DRTmpq53pt1qLTLE130_publicationInfo a np:PublicationInfo . } dgn-np:NP728591.RA4qNRiNocwpIAxK4XheiZRLkPya2DRTmpq53pt1qLTLE130_assertion { miriam-gene:3073 a ncit:C16612 . lld:C0085084 a ncit:C7057 . dgn-gda:DGN8227c87f80590bc3e7b1d446a4d57beb sio:SIO_000628 miriam-gene:3073, lld:C0085084; a sio:SIO_001121 . } dgn-np:NP728591.RA4qNRiNocwpIAxK4XheiZRLkPya2DRTmpq53pt1qLTLE130_provenance { dgn-np:NP728591.RA4qNRiNocwpIAxK4XheiZRLkPya2DRTmpq53pt1qLTLE130_assertion dcterms:description "[Genetic mutations have been identified in the major motor neuron diseases, including ALS, spinal muscular atrophy, bulbospinal muscular atrophy (Kennedy's disease), the hereditary spastic paraplegias, and rarer conditions such as GM2 gangliosidosis (hexosaminidase A deficiency).]. 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:11460829; 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:NP728591.RA4qNRiNocwpIAxK4XheiZRLkPya2DRTmpq53pt1qLTLE130_publicationInfo { this: dcterms:created "2014-10-02T12:39:22+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" . }