@prefix dct: .
@prefix ns1: .
@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 np: .
@prefix dgn-gda: .
@prefix dgn-void: .
ns1:NP1411037.RAyCs0Ka2wGQ7kqYjqYCSJ3fHubRK4xdqmHVlXAt7n2_A130_head {
this: np:hasAssertion ns1:NP1411037.RAyCs0Ka2wGQ7kqYjqYCSJ3fHubRK4xdqmHVlXAt7n2_A130_assertion;
np:hasProvenance ns1:NP1411037.RAyCs0Ka2wGQ7kqYjqYCSJ3fHubRK4xdqmHVlXAt7n2_A130_provenance;
np:hasPublicationInfo ns1:NP1411037.RAyCs0Ka2wGQ7kqYjqYCSJ3fHubRK4xdqmHVlXAt7n2_A130_publicationInfo;
a np:Nanopublication .
ns1:NP1411037.RAyCs0Ka2wGQ7kqYjqYCSJ3fHubRK4xdqmHVlXAt7n2_A130_assertion a np:Assertion .
ns1:NP1411037.RAyCs0Ka2wGQ7kqYjqYCSJ3fHubRK4xdqmHVlXAt7n2_A130_provenance a np:Provenance .
ns1:NP1411037.RAyCs0Ka2wGQ7kqYjqYCSJ3fHubRK4xdqmHVlXAt7n2_A130_publicationInfo a np:PublicationInfo .
}
ns1:NP1411037.RAyCs0Ka2wGQ7kqYjqYCSJ3fHubRK4xdqmHVlXAt7n2_A130_assertion {
miriam-gene:6103 a ncit:C16612 .
lld:C0035334 a ncit:C7057 .
dgn-gda:DGNd5ffea563f8c2c15f2ad20dd3e25638d sio:SIO_000628 miriam-gene:6103, lld:C0035334;
a sio:SIO_001121 .
}
ns1:NP1411037.RAyCs0Ka2wGQ7kqYjqYCSJ3fHubRK4xdqmHVlXAt7n2_A130_provenance {
ns1:NP1411037.RAyCs0Ka2wGQ7kqYjqYCSJ3fHubRK4xdqmHVlXAt7n2_A130_assertion dct:description
"[Thirty-six families with XLRP seen by the authors were screened for a possible mutation in the RPGR gene to identify three affected hemizygotes with retinitis pigmentosa and four heterozygote carriers in one family and one hemizygote and one carrier in a second family.]. 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:9855162;
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 .
}
ns1:NP1411037.RAyCs0Ka2wGQ7kqYjqYCSJ3fHubRK4xdqmHVlXAt7n2_A130_publicationInfo {
this: dct:created "2016-05-13T12:52:26+02:00"^^xsd:dateTime;
dct:rights ;
dct:rightsHolder dgn-void:IBIGroup;
dct: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" .
}