@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:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_head { this: np:hasAssertion dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_assertion; np:hasProvenance dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_provenance; np:hasPublicationInfo dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_publicationInfo; a np:Nanopublication . dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_assertion a np:Assertion . dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_provenance a np:Provenance . dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_publicationInfo a np:PublicationInfo . } dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_assertion { miriam-gene:6683 a ncit:C16612 . lld:C0277554 a ncit:C7057 . dgn-gda:DGN41f25793c89322c5f82ec977859ec7cd sio:SIO_000628 miriam-gene:6683, lld:C0277554; a sio:SIO_001121 . } dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_provenance { dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_assertion dcterms:description "[Our findings indicate that an abnormal interaction of mutant spastin with microtubules, which disrupts organelle transport on the microtubule cytoskeleton, is likely to be the primary disease mechanism in HSP caused by missense mutations in the spastin gene.]. 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:14681884; 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:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_publicationInfo { this: dcterms:created "2014-10-02T12:36:52+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" . }