@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns
> .
@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:NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_head
{
this:
np:hasAssertion
dgn-np:NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_assertion
;
np:hasProvenance
dgn-np:NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_provenance
;
np:hasPublicationInfo
dgn-np:NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_assertion
a
np:Assertion
.
dgn-np:NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_provenance
a
np:Provenance
.
dgn-np:NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_assertion
{
miriam-gene:3736
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGNfc95005c91cc205c2521270bb2f7d2b4
sio:SIO_000628
miriam-gene:3736
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_provenance
{
dgn-np:NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_assertion
dcterms:description
"[In this case, the combination of de novo single nucleotide polymorphisms (SNPs) and CNVs in the SCN1A and KCNA1 genes, respectively, is suspected to be the principal risk factor for both epilepsy and premature death.]. 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:24372310
;
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:NP1139920.RAEPOJnaaKTnIRSQ3EXQyPQNLGcuhyz-REl9teibbX4Ns130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:23+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" .
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pav:version
"v4.0.0" .
}