@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP400376.RAJ-NgjCtRhoPOmcjo0W3s8oCttZuSv_F2Bs9XemEUtiw
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP400376.RAJ-NgjCtRhoPOmcjo0W3s8oCttZuSv_F2Bs9XemEUtiw130_head
{
this:
np:hasAssertion
dgn-np:NP400376.RAJ-NgjCtRhoPOmcjo0W3s8oCttZuSv_F2Bs9XemEUtiw130_assertion
;
np:hasProvenance
dgn-np:NP400376.RAJ-NgjCtRhoPOmcjo0W3s8oCttZuSv_F2Bs9XemEUtiw130_provenance
;
np:hasPublicationInfo
dgn-np:NP400376.RAJ-NgjCtRhoPOmcjo0W3s8oCttZuSv_F2Bs9XemEUtiw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP400376.RAJ-NgjCtRhoPOmcjo0W3s8oCttZuSv_F2Bs9XemEUtiw130_assertion
a
np:Assertion
.
dgn-np:NP400376.RAJ-NgjCtRhoPOmcjo0W3s8oCttZuSv_F2Bs9XemEUtiw130_provenance
a
np:Provenance
.
dgn-np:NP400376.RAJ-NgjCtRhoPOmcjo0W3s8oCttZuSv_F2Bs9XemEUtiw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP400376.RAJ-NgjCtRhoPOmcjo0W3s8oCttZuSv_F2Bs9XemEUtiw130_assertion
{
miriam-gene:1861
a
ncit:C16612
.
lld:C1848954
a
ncit:C7057
.
dgn-gda:DGNdb28625644df496475d8bd76d46fd68b
sio:SIO_000628
miriam-gene:1861
,
lld:C1848954
;
a
sio:SIO_001121
.
}
dgn-np:NP400376.RAJ-NgjCtRhoPOmcjo0W3s8oCttZuSv_F2Bs9XemEUtiw130_provenance
{
dgn-np:NP400376.RAJ-NgjCtRhoPOmcjo0W3s8oCttZuSv_F2Bs9XemEUtiw130_assertion
dcterms:description
"[The aim of the study was: 1) to evaluate the prevalence of the DYT1 mutation in a population of Polish patients with early-onset generalized dystonia and with other forms of familial dystonia, 2) to evaluate the frequency of the DYT1 mutation in patients with writer's cramp, 3) to characterize the phenotype of the DYT1 mutation in the Polish population, and 4) to define the group of patients in whom genetic testing is recommended.]. 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:18224570
;
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:NP400376.RAJ-NgjCtRhoPOmcjo0W3s8oCttZuSv_F2Bs9XemEUtiw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:58+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}