@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:NP385458.RAHSYndGCcVmMo1LY1gHmNANJhO3ikJuIMAvK7FEBMMTc130_head { this: np:hasAssertion dgn-np:NP385458.RAHSYndGCcVmMo1LY1gHmNANJhO3ikJuIMAvK7FEBMMTc130_assertion; np:hasProvenance dgn-np:NP385458.RAHSYndGCcVmMo1LY1gHmNANJhO3ikJuIMAvK7FEBMMTc130_provenance; np:hasPublicationInfo dgn-np:NP385458.RAHSYndGCcVmMo1LY1gHmNANJhO3ikJuIMAvK7FEBMMTc130_publicationInfo; a np:Nanopublication . dgn-np:NP385458.RAHSYndGCcVmMo1LY1gHmNANJhO3ikJuIMAvK7FEBMMTc130_assertion a np:Assertion . dgn-np:NP385458.RAHSYndGCcVmMo1LY1gHmNANJhO3ikJuIMAvK7FEBMMTc130_provenance a np:Provenance . dgn-np:NP385458.RAHSYndGCcVmMo1LY1gHmNANJhO3ikJuIMAvK7FEBMMTc130_publicationInfo a np:PublicationInfo . } dgn-np:NP385458.RAHSYndGCcVmMo1LY1gHmNANJhO3ikJuIMAvK7FEBMMTc130_assertion { miriam-gene:3925 a ncit:C16612 . lld:C0026847 a ncit:C7057 . dgn-gda:DGN08c0e84aa7ce82d921d85d89a6161e68 sio:SIO_000628 miriam-gene:3925, lld:C0026847; a sio:SIO_001121 . } dgn-np:NP385458.RAHSYndGCcVmMo1LY1gHmNANJhO3ikJuIMAvK7FEBMMTc130_provenance { dgn-np:NP385458.RAHSYndGCcVmMo1LY1gHmNANJhO3ikJuIMAvK7FEBMMTc130_assertion dcterms:description "[As a first step in developing a treatment for SMA, we are examining whether delivery of the gene encoding survival motor neuron (SMN) protein to primary fibroblast cell lines derived from SMA patients can lead to restoration of nuclear-staining foci, called gems, which are absent in patients with severe SMA.]. 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:12614569; 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:NP385458.RAHSYndGCcVmMo1LY1gHmNANJhO3ikJuIMAvK7FEBMMTc130_publicationInfo { this: dcterms:created "2016-05-13T12:44:40+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" . }