@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP769499.RAtZlXY1Qlgh-_z9wzttovVWfnRVI8LfkRztnYaKr3gCU
> .
@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:NP769499.RAtZlXY1Qlgh-_z9wzttovVWfnRVI8LfkRztnYaKr3gCU130_head
{
this:
np:hasAssertion
dgn-np:NP769499.RAtZlXY1Qlgh-_z9wzttovVWfnRVI8LfkRztnYaKr3gCU130_assertion
;
np:hasProvenance
dgn-np:NP769499.RAtZlXY1Qlgh-_z9wzttovVWfnRVI8LfkRztnYaKr3gCU130_provenance
;
np:hasPublicationInfo
dgn-np:NP769499.RAtZlXY1Qlgh-_z9wzttovVWfnRVI8LfkRztnYaKr3gCU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP769499.RAtZlXY1Qlgh-_z9wzttovVWfnRVI8LfkRztnYaKr3gCU130_assertion
a
np:Assertion
.
dgn-np:NP769499.RAtZlXY1Qlgh-_z9wzttovVWfnRVI8LfkRztnYaKr3gCU130_provenance
a
np:Provenance
.
dgn-np:NP769499.RAtZlXY1Qlgh-_z9wzttovVWfnRVI8LfkRztnYaKr3gCU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP769499.RAtZlXY1Qlgh-_z9wzttovVWfnRVI8LfkRztnYaKr3gCU130_assertion
{
miriam-gene:112476
a
ncit:C16612
.
lld:C0085583
a
ncit:C7057
.
dgn-gda:DGNc9821d757cf60e03f7ddf23e8564a113
sio:SIO_000628
miriam-gene:112476
,
lld:C0085583
;
a
sio:SIO_001121
.
}
dgn-np:NP769499.RAtZlXY1Qlgh-_z9wzttovVWfnRVI8LfkRztnYaKr3gCU130_provenance
{
dgn-np:NP769499.RAtZlXY1Qlgh-_z9wzttovVWfnRVI8LfkRztnYaKr3gCU130_assertion
dcterms:description
"[Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone.]. 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:22623405
;
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:NP769499.RAtZlXY1Qlgh-_z9wzttovVWfnRVI8LfkRztnYaKr3gCU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:45+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" .
}