@prefix bfo: .
@prefix this: .
@prefix rdfs: .
@prefix xsd: .
@prefix sio: .
@prefix ncit: .
@prefix lld: .
@prefix miriam-gene: .
@prefix miriam-pubmed: .
@prefix wi: .
@prefix prov: .
@prefix pav: .
@prefix prv: .
@prefix dcterms: .
@prefix np: .
@prefix dgn-np: .
@prefix dgn-gda: .
@prefix dgn-void: .
dgn-np:NP232001.RAsLbqskYYO3KfAtsJ6Il2_6GsJNzcUwXwLpgwhqF0Rl8130_head {
this: np:hasAssertion dgn-np:NP232001.RAsLbqskYYO3KfAtsJ6Il2_6GsJNzcUwXwLpgwhqF0Rl8130_assertion;
np:hasProvenance dgn-np:NP232001.RAsLbqskYYO3KfAtsJ6Il2_6GsJNzcUwXwLpgwhqF0Rl8130_provenance;
np:hasPublicationInfo dgn-np:NP232001.RAsLbqskYYO3KfAtsJ6Il2_6GsJNzcUwXwLpgwhqF0Rl8130_publicationInfo;
a np:Nanopublication .
dgn-np:NP232001.RAsLbqskYYO3KfAtsJ6Il2_6GsJNzcUwXwLpgwhqF0Rl8130_assertion a np:Assertion .
dgn-np:NP232001.RAsLbqskYYO3KfAtsJ6Il2_6GsJNzcUwXwLpgwhqF0Rl8130_provenance a np:Provenance .
dgn-np:NP232001.RAsLbqskYYO3KfAtsJ6Il2_6GsJNzcUwXwLpgwhqF0Rl8130_publicationInfo a
np:PublicationInfo .
}
dgn-np:NP232001.RAsLbqskYYO3KfAtsJ6Il2_6GsJNzcUwXwLpgwhqF0Rl8130_assertion {
miriam-gene:4976 a ncit:C16612 .
lld:C0004134 a ncit:C7057 .
dgn-gda:DGN426accf0b630f09559eac950849f2f01 sio:SIO_000628 miriam-gene:4976, lld:C0004134;
a sio:SIO_001122 .
}
dgn-np:NP232001.RAsLbqskYYO3KfAtsJ6Il2_6GsJNzcUwXwLpgwhqF0Rl8130_provenance {
dgn-np:NP232001.RAsLbqskYYO3KfAtsJ6Il2_6GsJNzcUwXwLpgwhqF0Rl8130_assertion dcterms:description
"[a heterozygous mis-sense mutation in exon 17 of OPA1: c.1635C > G, causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions.]. 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:18065439;
prov:wasDerivedFrom dgn-void:lhgdn-20090331;
prov:wasGeneratedBy bfo:ECO_0000203 .
dgn-void:lhgdn-20090331 pav:importedOn "2009-03-31"^^xsd:date .
dgn-void:source_evidence_literature a bfo:ECO_0000212;
rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en;
rdfs:label "DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP232001.RAsLbqskYYO3KfAtsJ6Il2_6GsJNzcUwXwLpgwhqF0Rl8130_publicationInfo {
this: dcterms:created "2016-05-13T12:43:31+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" .
}