@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP87582.RAAkrE9JB1Gemln-sWQyFtdupHFcCtc6_Cv_tKmFb5T7g
> .
@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:NP87582.RAAkrE9JB1Gemln-sWQyFtdupHFcCtc6_Cv_tKmFb5T7g130_head
{
this:
np:hasAssertion
dgn-np:NP87582.RAAkrE9JB1Gemln-sWQyFtdupHFcCtc6_Cv_tKmFb5T7g130_assertion
;
np:hasProvenance
dgn-np:NP87582.RAAkrE9JB1Gemln-sWQyFtdupHFcCtc6_Cv_tKmFb5T7g130_provenance
;
np:hasPublicationInfo
dgn-np:NP87582.RAAkrE9JB1Gemln-sWQyFtdupHFcCtc6_Cv_tKmFb5T7g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP87582.RAAkrE9JB1Gemln-sWQyFtdupHFcCtc6_Cv_tKmFb5T7g130_assertion
a
np:Assertion
.
dgn-np:NP87582.RAAkrE9JB1Gemln-sWQyFtdupHFcCtc6_Cv_tKmFb5T7g130_provenance
a
np:Provenance
.
dgn-np:NP87582.RAAkrE9JB1Gemln-sWQyFtdupHFcCtc6_Cv_tKmFb5T7g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP87582.RAAkrE9JB1Gemln-sWQyFtdupHFcCtc6_Cv_tKmFb5T7g130_assertion
{
miriam-gene:2562
a
ncit:C16612
.
lld:C0393593
a
ncit:C7057
.
dgn-gda:DGNb1115ef0eb80aef5d22f44f9b4bbedff
sio:SIO_000628
miriam-gene:2562
,
lld:C0393593
;
a
sio:SIO_001122
.
}
dgn-np:NP87582.RAAkrE9JB1Gemln-sWQyFtdupHFcCtc6_Cv_tKmFb5T7g130_provenance
{
dgn-np:NP87582.RAAkrE9JB1Gemln-sWQyFtdupHFcCtc6_Cv_tKmFb5T7g130_assertion
dcterms:description
"[In this study, we tested the hypothesis that mutations in the GABRA1, GABRB3, and GABRG2 genes encoding the alpha1, beta3, and gamma subunits of the GABA(A) receptor are involved in familial primary dystonia.]. 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:17880575
;
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:NP87582.RAAkrE9JB1Gemln-sWQyFtdupHFcCtc6_Cv_tKmFb5T7g130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:43+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" .
}