@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:NP1258816.RAsaU6AerImhx-lij4RbfufrTlm-5zqn6CO6JksD-RnUw130_head { this: np:hasAssertion dgn-np:NP1258816.RAsaU6AerImhx-lij4RbfufrTlm-5zqn6CO6JksD-RnUw130_assertion; np:hasProvenance dgn-np:NP1258816.RAsaU6AerImhx-lij4RbfufrTlm-5zqn6CO6JksD-RnUw130_provenance; np:hasPublicationInfo dgn-np:NP1258816.RAsaU6AerImhx-lij4RbfufrTlm-5zqn6CO6JksD-RnUw130_publicationInfo; a np:Nanopublication . dgn-np:NP1258816.RAsaU6AerImhx-lij4RbfufrTlm-5zqn6CO6JksD-RnUw130_assertion a np:Assertion . dgn-np:NP1258816.RAsaU6AerImhx-lij4RbfufrTlm-5zqn6CO6JksD-RnUw130_provenance a np:Provenance . dgn-np:NP1258816.RAsaU6AerImhx-lij4RbfufrTlm-5zqn6CO6JksD-RnUw130_publicationInfo a np:PublicationInfo . } dgn-np:NP1258816.RAsaU6AerImhx-lij4RbfufrTlm-5zqn6CO6JksD-RnUw130_assertion { miriam-gene:57819 a ncit:C16612 . lld:C0002736 a ncit:C7057 . dgn-gda:DGN2a27cfdfa754531d11397c6f953b02a6 sio:SIO_000628 miriam-gene:57819, lld:C0002736; a sio:SIO_001121 . } dgn-np:NP1258816.RAsaU6AerImhx-lij4RbfufrTlm-5zqn6CO6JksD-RnUw130_provenance { dgn-np:NP1258816.RAsaU6AerImhx-lij4RbfufrTlm-5zqn6CO6JksD-RnUw130_assertion dcterms:description "[Taken together, these studies establish potentially converging disease mechanisms in ALS and spinal muscular atrophy, with ALS-causative mutants acquiring properties representing both gain (dysregulation of SMN) and loss (reduced RNA processing mediated by U1-snRNP) of function.]. 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:25625564; 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:NP1258816.RAsaU6AerImhx-lij4RbfufrTlm-5zqn6CO6JksD-RnUw130_publicationInfo { this: dcterms:created "2016-05-13T12:51:17+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" . }