@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP266296.RAOMMAV_8kPx5lX7byndXZrs6kHwe6SbL7vXSBXwOeHYs
> .
@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:NP266296.RAOMMAV_8kPx5lX7byndXZrs6kHwe6SbL7vXSBXwOeHYs130_head
{
this:
np:hasAssertion
dgn-np:NP266296.RAOMMAV_8kPx5lX7byndXZrs6kHwe6SbL7vXSBXwOeHYs130_assertion
;
np:hasProvenance
dgn-np:NP266296.RAOMMAV_8kPx5lX7byndXZrs6kHwe6SbL7vXSBXwOeHYs130_provenance
;
np:hasPublicationInfo
dgn-np:NP266296.RAOMMAV_8kPx5lX7byndXZrs6kHwe6SbL7vXSBXwOeHYs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP266296.RAOMMAV_8kPx5lX7byndXZrs6kHwe6SbL7vXSBXwOeHYs130_assertion
a
np:Assertion
.
dgn-np:NP266296.RAOMMAV_8kPx5lX7byndXZrs6kHwe6SbL7vXSBXwOeHYs130_provenance
a
np:Provenance
.
dgn-np:NP266296.RAOMMAV_8kPx5lX7byndXZrs6kHwe6SbL7vXSBXwOeHYs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP266296.RAOMMAV_8kPx5lX7byndXZrs6kHwe6SbL7vXSBXwOeHYs130_assertion
{
miriam-gene:57526
a
ncit:C16612
.
lld:C0036572
a
ncit:C7057
.
dgn-gda:DGN2d38693f5995fb7dae4fc6ea02babb00
sio:SIO_000628
miriam-gene:57526
,
lld:C0036572
;
a
sio:SIO_001121
.
}
dgn-np:NP266296.RAOMMAV_8kPx5lX7byndXZrs6kHwe6SbL7vXSBXwOeHYs130_provenance
{
dgn-np:NP266296.RAOMMAV_8kPx5lX7byndXZrs6kHwe6SbL7vXSBXwOeHYs130_assertion
dcterms:description
"[Following recent descriptions of PCDH19 mutation in girls with epilepsy, we sequenced this gene in patients with infantile or early childhood seizures onset, either focal or generalized, without an obvious etiology.]. 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:21480887
;
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:NP266296.RAOMMAV_8kPx5lX7byndXZrs6kHwe6SbL7vXSBXwOeHYs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:28+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" .
}