@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:NP838281.RA0GtFKWwIqTNfZroYwwmRBYcJ-08r6F---nmwXqSTapg130_head { this: np:hasAssertion dgn-np:NP838281.RA0GtFKWwIqTNfZroYwwmRBYcJ-08r6F---nmwXqSTapg130_assertion; np:hasProvenance dgn-np:NP838281.RA0GtFKWwIqTNfZroYwwmRBYcJ-08r6F---nmwXqSTapg130_provenance; np:hasPublicationInfo dgn-np:NP838281.RA0GtFKWwIqTNfZroYwwmRBYcJ-08r6F---nmwXqSTapg130_publicationInfo; a np:Nanopublication . dgn-np:NP838281.RA0GtFKWwIqTNfZroYwwmRBYcJ-08r6F---nmwXqSTapg130_assertion a np:Assertion . dgn-np:NP838281.RA0GtFKWwIqTNfZroYwwmRBYcJ-08r6F---nmwXqSTapg130_provenance a np:Provenance . dgn-np:NP838281.RA0GtFKWwIqTNfZroYwwmRBYcJ-08r6F---nmwXqSTapg130_publicationInfo a np:PublicationInfo . } dgn-np:NP838281.RA0GtFKWwIqTNfZroYwwmRBYcJ-08r6F---nmwXqSTapg130_assertion { miriam-gene:6638 a ncit:C16612 . lld:C0026847 a ncit:C7057 . dgn-gda:DGN42adf9df73d8129e8c28845ffa73b9c5 sio:SIO_000628 miriam-gene:6638, lld:C0026847; a sio:SIO_001121 . } dgn-np:NP838281.RA0GtFKWwIqTNfZroYwwmRBYcJ-08r6F---nmwXqSTapg130_provenance { dgn-np:NP838281.RA0GtFKWwIqTNfZroYwwmRBYcJ-08r6F---nmwXqSTapg130_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:NP838281.RA0GtFKWwIqTNfZroYwwmRBYcJ-08r6F---nmwXqSTapg130_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" . }