@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:NP838279.RAIXZ1vwSNHdEanjFLKwUvxVQ_6L91qQYYRNejktzHWXs130_head { this: np:hasAssertion dgn-np:NP838279.RAIXZ1vwSNHdEanjFLKwUvxVQ_6L91qQYYRNejktzHWXs130_assertion; np:hasProvenance dgn-np:NP838279.RAIXZ1vwSNHdEanjFLKwUvxVQ_6L91qQYYRNejktzHWXs130_provenance; np:hasPublicationInfo dgn-np:NP838279.RAIXZ1vwSNHdEanjFLKwUvxVQ_6L91qQYYRNejktzHWXs130_publicationInfo; a np:Nanopublication . dgn-np:NP838279.RAIXZ1vwSNHdEanjFLKwUvxVQ_6L91qQYYRNejktzHWXs130_assertion a np:Assertion . dgn-np:NP838279.RAIXZ1vwSNHdEanjFLKwUvxVQ_6L91qQYYRNejktzHWXs130_provenance a np:Provenance . dgn-np:NP838279.RAIXZ1vwSNHdEanjFLKwUvxVQ_6L91qQYYRNejktzHWXs130_publicationInfo a np:PublicationInfo . } dgn-np:NP838279.RAIXZ1vwSNHdEanjFLKwUvxVQ_6L91qQYYRNejktzHWXs130_assertion { miriam-gene:6607 a ncit:C16612 . lld:C0026847 a ncit:C7057 . dgn-gda:DGN68ce28b54623f155748c1d50281deb28 sio:SIO_000628 miriam-gene:6607, lld:C0026847; a sio:SIO_001121 . } dgn-np:NP838279.RAIXZ1vwSNHdEanjFLKwUvxVQ_6L91qQYYRNejktzHWXs130_provenance { dgn-np:NP838279.RAIXZ1vwSNHdEanjFLKwUvxVQ_6L91qQYYRNejktzHWXs130_assertion dcterms:description "[The correlation between the SMA phenotype and the SMN2 copy number and the demonstration that sufficient SMN protein from SMN2 in transgenic mice can ameliorate the disease has made the SMN2 gene an obvious target that is being modulated in current therapeutic trials.]. 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:20829691; 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:NP838279.RAIXZ1vwSNHdEanjFLKwUvxVQ_6L91qQYYRNejktzHWXs130_publicationInfo { this: dcterms:created "2016-05-13T12:48:05+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" . }