@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:NP823895.RAEARDr98LvRn4o877UAPoN2Kfa1aBqBXit1S9gOxDalE130_head { this: np:hasAssertion dgn-np:NP823895.RAEARDr98LvRn4o877UAPoN2Kfa1aBqBXit1S9gOxDalE130_assertion; np:hasProvenance dgn-np:NP823895.RAEARDr98LvRn4o877UAPoN2Kfa1aBqBXit1S9gOxDalE130_provenance; np:hasPublicationInfo dgn-np:NP823895.RAEARDr98LvRn4o877UAPoN2Kfa1aBqBXit1S9gOxDalE130_publicationInfo; a np:Nanopublication . dgn-np:NP823895.RAEARDr98LvRn4o877UAPoN2Kfa1aBqBXit1S9gOxDalE130_assertion a np:Assertion . dgn-np:NP823895.RAEARDr98LvRn4o877UAPoN2Kfa1aBqBXit1S9gOxDalE130_provenance a np:Provenance . dgn-np:NP823895.RAEARDr98LvRn4o877UAPoN2Kfa1aBqBXit1S9gOxDalE130_publicationInfo a np:PublicationInfo . } dgn-np:NP823895.RAEARDr98LvRn4o877UAPoN2Kfa1aBqBXit1S9gOxDalE130_assertion { miriam-gene:6607 a ncit:C16612 . lld:C0026847 a ncit:C7057 . dgn-gda:DGNb36b88f26cb0e6edaf87612712c98dae sio:SIO_000628 miriam-gene:6607, lld:C0026847; a sio:SIO_001121 . } dgn-np:NP823895.RAEARDr98LvRn4o877UAPoN2Kfa1aBqBXit1S9gOxDalE130_provenance { dgn-np:NP823895.RAEARDr98LvRn4o877UAPoN2Kfa1aBqBXit1S9gOxDalE130_assertion dcterms:description "[To clarify the pathomechanism of spinal muscular atrophy (SMA) with mutations in the gene for survival motor neuron (SMN) protein, postmortem neuropathological analyses were performed on spinal cords obtained at autopsy from 2 fetuses with SMA, 5 infants and a low teenager with SMA type 1, and a higher teenager with SMA type 2; the diagnosis of all of them was confirmed clinically and genetically.]. 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:20605078; 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:NP823895.RAEARDr98LvRn4o877UAPoN2Kfa1aBqBXit1S9gOxDalE130_publicationInfo { this: dcterms:created "2016-05-13T12:47:58+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" . }