@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:NP599286.RAGAtIXsFBicwdXh21mNmDz-6m96gT-WxaY1pfuuBT5_I130_head { this: np:hasAssertion dgn-np:NP599286.RAGAtIXsFBicwdXh21mNmDz-6m96gT-WxaY1pfuuBT5_I130_assertion; np:hasProvenance dgn-np:NP599286.RAGAtIXsFBicwdXh21mNmDz-6m96gT-WxaY1pfuuBT5_I130_provenance; np:hasPublicationInfo dgn-np:NP599286.RAGAtIXsFBicwdXh21mNmDz-6m96gT-WxaY1pfuuBT5_I130_publicationInfo; a np:Nanopublication . dgn-np:NP599286.RAGAtIXsFBicwdXh21mNmDz-6m96gT-WxaY1pfuuBT5_I130_assertion a np:Assertion . dgn-np:NP599286.RAGAtIXsFBicwdXh21mNmDz-6m96gT-WxaY1pfuuBT5_I130_provenance a np:Provenance . dgn-np:NP599286.RAGAtIXsFBicwdXh21mNmDz-6m96gT-WxaY1pfuuBT5_I130_publicationInfo a np:PublicationInfo . } dgn-np:NP599286.RAGAtIXsFBicwdXh21mNmDz-6m96gT-WxaY1pfuuBT5_I130_assertion { miriam-gene:9351 a ncit:C16612 . lld:C0026847 a ncit:C7057 . dgn-gda:DGN68aa651fac29f0a88b53737e927afae1 sio:SIO_000628 miriam-gene:9351, lld:C0026847; a sio:SIO_001121 . } dgn-np:NP599286.RAGAtIXsFBicwdXh21mNmDz-6m96gT-WxaY1pfuuBT5_I130_provenance { dgn-np:NP599286.RAGAtIXsFBicwdXh21mNmDz-6m96gT-WxaY1pfuuBT5_I130_assertion dcterms:description "[Since both genes, SMN1 and SIP1, belong to the same pathway and are part of the same protein complex, it is obvious to ask whether mutations within SIP1 are responsible for both the phenotypic variability and the appearance of non-SMN mutated SMA patients.]. 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:10909848; 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:NP599286.RAGAtIXsFBicwdXh21mNmDz-6m96gT-WxaY1pfuuBT5_I130_publicationInfo { this: dcterms:created "2014-10-02T12:38:00+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" . }