@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP396086.RAbDLJ2VptpO5isFfX1p14nnG57d1xUdyn3GaGA1wFS84
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP396086.RAbDLJ2VptpO5isFfX1p14nnG57d1xUdyn3GaGA1wFS84130_head
{
this:
np:hasAssertion
dgn-np:NP396086.RAbDLJ2VptpO5isFfX1p14nnG57d1xUdyn3GaGA1wFS84130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP396086.RAbDLJ2VptpO5isFfX1p14nnG57d1xUdyn3GaGA1wFS84130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP396086.RAbDLJ2VptpO5isFfX1p14nnG57d1xUdyn3GaGA1wFS84130_assertion
a
np:Assertion
.
dgn-np:NP396086.RAbDLJ2VptpO5isFfX1p14nnG57d1xUdyn3GaGA1wFS84130_provenance
a
np:Provenance
.
dgn-np:NP396086.RAbDLJ2VptpO5isFfX1p14nnG57d1xUdyn3GaGA1wFS84130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP396086.RAbDLJ2VptpO5isFfX1p14nnG57d1xUdyn3GaGA1wFS84130_assertion
{
miriam-gene:2566
a
ncit:C16612
.
lld:C0751122
a
ncit:C7057
.
dgn-gda:DGNec89b6ed2918674ef79351c478cb1b36
sio:SIO_000628
miriam-gene:2566
,
lld:C0751122
;
a
sio:SIO_001121
.
}
dgn-np:NP396086.RAbDLJ2VptpO5isFfX1p14nnG57d1xUdyn3GaGA1wFS84130_provenance
{
dgn-np:NP396086.RAbDLJ2VptpO5isFfX1p14nnG57d1xUdyn3GaGA1wFS84130_assertion
dcterms:description
"[In order to further investigate the role of SCN1A and GABRG2 in the pathogenesis of SMEI we have screened for mutations three families with at least two members affected by Dravet syndrome.]. 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:12773292
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP396086.RAbDLJ2VptpO5isFfX1p14nnG57d1xUdyn3GaGA1wFS84130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:45+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
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;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}