@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:NP1410116.RAM_fgKru287tWizgLGfheLSDKIGI5xtlTZhBaav7nKUw130_head { this: np:hasAssertion dgn-np:NP1410116.RAM_fgKru287tWizgLGfheLSDKIGI5xtlTZhBaav7nKUw130_assertion; np:hasProvenance dgn-np:NP1410116.RAM_fgKru287tWizgLGfheLSDKIGI5xtlTZhBaav7nKUw130_provenance; np:hasPublicationInfo dgn-np:NP1410116.RAM_fgKru287tWizgLGfheLSDKIGI5xtlTZhBaav7nKUw130_publicationInfo; a np:Nanopublication . dgn-np:NP1410116.RAM_fgKru287tWizgLGfheLSDKIGI5xtlTZhBaav7nKUw130_assertion a np:Assertion . dgn-np:NP1410116.RAM_fgKru287tWizgLGfheLSDKIGI5xtlTZhBaav7nKUw130_provenance a np:Provenance . dgn-np:NP1410116.RAM_fgKru287tWizgLGfheLSDKIGI5xtlTZhBaav7nKUw130_publicationInfo a np:PublicationInfo . } dgn-np:NP1410116.RAM_fgKru287tWizgLGfheLSDKIGI5xtlTZhBaav7nKUw130_assertion { miriam-gene:6607 a ncit:C16612 . lld:C0027868 a ncit:C7057 . dgn-gda:DGNb2ebc0b416fc49836d46bbfb33d9a577 sio:SIO_000628 miriam-gene:6607, lld:C0027868; a sio:SIO_001121 . } dgn-np:NP1410116.RAM_fgKru287tWizgLGfheLSDKIGI5xtlTZhBaav7nKUw130_provenance { dgn-np:NP1410116.RAM_fgKru287tWizgLGfheLSDKIGI5xtlTZhBaav7nKUw130_assertion dcterms:description "[The autosomal recessive neuromuscular disorder proximal spinal muscular atrophy (SMA) is caused by the loss or mutation of the survival motor neuron (SMN) gene, which exists in two nearly identical copies, telomeric SMN (telSMN) and centromeric SMN (cenSMN).]. 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:9837824; 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:NP1410116.RAM_fgKru287tWizgLGfheLSDKIGI5xtlTZhBaav7nKUw130_publicationInfo { this: dcterms:created "2016-05-13T12:52:26+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" . }