@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP742632.RAix_17Fkq6NBGq-y6W5sPCVIIfgrKJk0wfhaCHCN2LB0
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP742632.RAix_17Fkq6NBGq-y6W5sPCVIIfgrKJk0wfhaCHCN2LB0130_head
{
this:
np:hasAssertion
dgn-np:NP742632.RAix_17Fkq6NBGq-y6W5sPCVIIfgrKJk0wfhaCHCN2LB0130_assertion
;
np:hasProvenance
dgn-np:NP742632.RAix_17Fkq6NBGq-y6W5sPCVIIfgrKJk0wfhaCHCN2LB0130_provenance
;
np:hasPublicationInfo
dgn-np:NP742632.RAix_17Fkq6NBGq-y6W5sPCVIIfgrKJk0wfhaCHCN2LB0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP742632.RAix_17Fkq6NBGq-y6W5sPCVIIfgrKJk0wfhaCHCN2LB0130_assertion
a
np:Assertion
.
dgn-np:NP742632.RAix_17Fkq6NBGq-y6W5sPCVIIfgrKJk0wfhaCHCN2LB0130_provenance
a
np:Provenance
.
dgn-np:NP742632.RAix_17Fkq6NBGq-y6W5sPCVIIfgrKJk0wfhaCHCN2LB0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP742632.RAix_17Fkq6NBGq-y6W5sPCVIIfgrKJk0wfhaCHCN2LB0130_assertion
{
miriam-gene:2643
a
ncit:C16612
.
lld:C0242422
a
ncit:C7057
.
dgn-gda:DGN6018b27a542c7f6a97dada8896f04b0c
sio:SIO_000628
miriam-gene:2643
,
lld:C0242422
;
a
sio:SIO_001121
.
}
dgn-np:NP742632.RAix_17Fkq6NBGq-y6W5sPCVIIfgrKJk0wfhaCHCN2LB0130_provenance
{
dgn-np:NP742632.RAix_17Fkq6NBGq-y6W5sPCVIIfgrKJk0wfhaCHCN2LB0130_assertion
dcterms:description
"[The clinical presentations of patients with mutations in TH and SPR genes were strikingly more complex, characterized by mental retardation, oculogyric crises and parkinsonism and they were all classified as Dopa-responsive dystonia-plus syndromes.]. 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:19491146
;
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:NP742632.RAix_17Fkq6NBGq-y6W5sPCVIIfgrKJk0wfhaCHCN2LB0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:21+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}