@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:NP823897.RAjWkSgq4h5wHpQwJhI02BuqXk8Qf8OOh7xv8PcnfyWA8130_head { this: np:hasAssertion dgn-np:NP823897.RAjWkSgq4h5wHpQwJhI02BuqXk8Qf8OOh7xv8PcnfyWA8130_assertion; np:hasProvenance dgn-np:NP823897.RAjWkSgq4h5wHpQwJhI02BuqXk8Qf8OOh7xv8PcnfyWA8130_provenance; np:hasPublicationInfo dgn-np:NP823897.RAjWkSgq4h5wHpQwJhI02BuqXk8Qf8OOh7xv8PcnfyWA8130_publicationInfo; a np:Nanopublication . dgn-np:NP823897.RAjWkSgq4h5wHpQwJhI02BuqXk8Qf8OOh7xv8PcnfyWA8130_assertion a np:Assertion . dgn-np:NP823897.RAjWkSgq4h5wHpQwJhI02BuqXk8Qf8OOh7xv8PcnfyWA8130_provenance a np:Provenance . dgn-np:NP823897.RAjWkSgq4h5wHpQwJhI02BuqXk8Qf8OOh7xv8PcnfyWA8130_publicationInfo a np:PublicationInfo . } dgn-np:NP823897.RAjWkSgq4h5wHpQwJhI02BuqXk8Qf8OOh7xv8PcnfyWA8130_assertion { miriam-gene:3925 a ncit:C16612 . lld:C0026847 a ncit:C7057 . dgn-gda:DGNec97b1977a7b6b8ffab655b4a6c4d19f sio:SIO_000628 miriam-gene:3925, lld:C0026847; a sio:SIO_001121 . } dgn-np:NP823897.RAjWkSgq4h5wHpQwJhI02BuqXk8Qf8OOh7xv8PcnfyWA8130_provenance { dgn-np:NP823897.RAjWkSgq4h5wHpQwJhI02BuqXk8Qf8OOh7xv8PcnfyWA8130_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:NP823897.RAjWkSgq4h5wHpQwJhI02BuqXk8Qf8OOh7xv8PcnfyWA8130_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" . }