@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:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_head { this: np:hasAssertion dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_assertion; np:hasProvenance dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_provenance; np:hasPublicationInfo dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_publicationInfo; a np:Nanopublication . dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_assertion a np:Assertion . dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_provenance a np:Provenance . dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_publicationInfo a np:PublicationInfo . } dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_assertion { miriam-gene:6683 a ncit:C16612 . lld:C0085621 a ncit:C7057 . dgn-gda:DGNccd51d3bec2fc15cb4b75eb8e618e82a sio:SIO_000628 miriam-gene:6683, lld:C0085621; a sio:SIO_001122 . } dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_provenance { dgn-np:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_assertion dcterms:description "[ To our knowledge, this is the first report of SPG4 mutations in the People's Republic of China. The percentage of involved Chinese families with autosomal dominant hereditary spastic paraplegia with an SPG4 mutation is 18% (4/22), lower than the estimated 40% linked to this locus.]. 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:14732620; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP51143.RA7QvPchg3KMloRdrAbG8nDuMCbopofTCy7qfwNVkRN0Q130_publicationInfo { this: dcterms:created "2014-10-02T12:32:23+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" . }