@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:NP782770.RAVjPb78NpWy0XSlY3MRaiCt3Q1YQ4h1SAGgkZUcFGM50130_head { this: np:hasAssertion dgn-np:NP782770.RAVjPb78NpWy0XSlY3MRaiCt3Q1YQ4h1SAGgkZUcFGM50130_assertion; np:hasProvenance dgn-np:NP782770.RAVjPb78NpWy0XSlY3MRaiCt3Q1YQ4h1SAGgkZUcFGM50130_provenance; np:hasPublicationInfo dgn-np:NP782770.RAVjPb78NpWy0XSlY3MRaiCt3Q1YQ4h1SAGgkZUcFGM50130_publicationInfo; a np:Nanopublication . dgn-np:NP782770.RAVjPb78NpWy0XSlY3MRaiCt3Q1YQ4h1SAGgkZUcFGM50130_assertion a np:Assertion . dgn-np:NP782770.RAVjPb78NpWy0XSlY3MRaiCt3Q1YQ4h1SAGgkZUcFGM50130_provenance a np:Provenance . dgn-np:NP782770.RAVjPb78NpWy0XSlY3MRaiCt3Q1YQ4h1SAGgkZUcFGM50130_publicationInfo a np:PublicationInfo . } dgn-np:NP782770.RAVjPb78NpWy0XSlY3MRaiCt3Q1YQ4h1SAGgkZUcFGM50130_assertion { miriam-gene:6607 a ncit:C16612 . lld:C0151786 a ncit:C7057 . dgn-gda:DGNe8d7908e9bd22c19b25b8f53aaaee6bf sio:SIO_000628 miriam-gene:6607, lld:C0151786; a sio:SIO_001121 . } dgn-np:NP782770.RAVjPb78NpWy0XSlY3MRaiCt3Q1YQ4h1SAGgkZUcFGM50130_provenance { dgn-np:NP782770.RAVjPb78NpWy0XSlY3MRaiCt3Q1YQ4h1SAGgkZUcFGM50130_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 1 (SMN1) gene.]. 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:20025960; 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:NP782770.RAVjPb78NpWy0XSlY3MRaiCt3Q1YQ4h1SAGgkZUcFGM50130_publicationInfo { this: dcterms:created "2016-05-13T12:47:40+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" . }