@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:NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_head { this: np:hasAssertion dgn-np:NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_assertion; np:hasProvenance dgn-np:NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_provenance; np:hasPublicationInfo dgn-np:NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_publicationInfo; a np:Nanopublication . dgn-np:NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_assertion a np:Assertion . dgn-np:NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_provenance a np:Provenance . dgn-np:NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_publicationInfo a np:PublicationInfo . } dgn-np:NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_assertion { miriam-gene:3925 a ncit:C16612 . lld:C0030552 a ncit:C7057 . dgn-gda:DGN1c0b2e21ec44d199c9a89a158d6764fb sio:SIO_000628 miriam-gene:3925, lld:C0030552; a sio:SIO_001121 . } dgn-np:NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_provenance { dgn-np:NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_assertion dcterms:description "[Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron (SMN) gene identified and mapped to chromosome 5q13.]. 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:19378506; 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:NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_publicationInfo { this: dcterms:created "2014-10-02T12:40:00+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" . }