@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:NP733318.RAnr5LUIZ8Sehh5g7QTCiwQ6BEKC3GLWMwGg9knI-h0kk130_head { this: np:hasAssertion dgn-np:NP733318.RAnr5LUIZ8Sehh5g7QTCiwQ6BEKC3GLWMwGg9knI-h0kk130_assertion; np:hasProvenance dgn-np:NP733318.RAnr5LUIZ8Sehh5g7QTCiwQ6BEKC3GLWMwGg9knI-h0kk130_provenance; np:hasPublicationInfo dgn-np:NP733318.RAnr5LUIZ8Sehh5g7QTCiwQ6BEKC3GLWMwGg9knI-h0kk130_publicationInfo; a np:Nanopublication . dgn-np:NP733318.RAnr5LUIZ8Sehh5g7QTCiwQ6BEKC3GLWMwGg9knI-h0kk130_assertion a np:Assertion . dgn-np:NP733318.RAnr5LUIZ8Sehh5g7QTCiwQ6BEKC3GLWMwGg9knI-h0kk130_provenance a np:Provenance . dgn-np:NP733318.RAnr5LUIZ8Sehh5g7QTCiwQ6BEKC3GLWMwGg9knI-h0kk130_publicationInfo a np:PublicationInfo . } dgn-np:NP733318.RAnr5LUIZ8Sehh5g7QTCiwQ6BEKC3GLWMwGg9knI-h0kk130_assertion { miriam-gene:6607 a ncit:C16612 . lld:C0027868 a ncit:C7057 . dgn-gda:DGNf84372ebd93e947d5559ff4e2c2b2036 sio:SIO_000628 miriam-gene:6607, lld:C0027868; a sio:SIO_001121 . } dgn-np:NP733318.RAnr5LUIZ8Sehh5g7QTCiwQ6BEKC3GLWMwGg9knI-h0kk130_provenance { dgn-np:NP733318.RAnr5LUIZ8Sehh5g7QTCiwQ6BEKC3GLWMwGg9knI-h0kk130_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-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:NP733318.RAnr5LUIZ8Sehh5g7QTCiwQ6BEKC3GLWMwGg9knI-h0kk130_publicationInfo { this: dcterms:created "2016-05-13T12:47:17+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" . }