@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP532602.RAZ2dJHrnQP_9wrmtzZ-Leah_NoM75Yx6tkp3f94hr0vI
> .
@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:NP532602.RAZ2dJHrnQP_9wrmtzZ-Leah_NoM75Yx6tkp3f94hr0vI130_head
{
this:
np:hasAssertion
dgn-np:NP532602.RAZ2dJHrnQP_9wrmtzZ-Leah_NoM75Yx6tkp3f94hr0vI130_assertion
;
np:hasProvenance
dgn-np:NP532602.RAZ2dJHrnQP_9wrmtzZ-Leah_NoM75Yx6tkp3f94hr0vI130_provenance
;
np:hasPublicationInfo
dgn-np:NP532602.RAZ2dJHrnQP_9wrmtzZ-Leah_NoM75Yx6tkp3f94hr0vI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP532602.RAZ2dJHrnQP_9wrmtzZ-Leah_NoM75Yx6tkp3f94hr0vI130_assertion
a
np:Assertion
.
dgn-np:NP532602.RAZ2dJHrnQP_9wrmtzZ-Leah_NoM75Yx6tkp3f94hr0vI130_provenance
a
np:Provenance
.
dgn-np:NP532602.RAZ2dJHrnQP_9wrmtzZ-Leah_NoM75Yx6tkp3f94hr0vI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP532602.RAZ2dJHrnQP_9wrmtzZ-Leah_NoM75Yx6tkp3f94hr0vI130_assertion
{
miriam-gene:6323
a
ncit:C16612
.
lld:C0393702
a
ncit:C7057
.
dgn-gda:DGN18c5282e2fab227449b00f40942daae2
sio:SIO_000628
miriam-gene:6323
,
lld:C0393702
;
a
sio:SIO_001121
.
}
dgn-np:NP532602.RAZ2dJHrnQP_9wrmtzZ-Leah_NoM75Yx6tkp3f94hr0vI130_provenance
{
dgn-np:NP532602.RAZ2dJHrnQP_9wrmtzZ-Leah_NoM75Yx6tkp3f94hr0vI130_assertion
dcterms:description
"[These findings confirm that mutations in the SCN1A gene are mainly involved in the pathogenesis of SMEI, rarely in that of SIGEI, and are commonly not found in patients with MAE.]. 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:19464834
;
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:NP532602.RAZ2dJHrnQP_9wrmtzZ-Leah_NoM75Yx6tkp3f94hr0vI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:21+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: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" .
}