@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U
> .
@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:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_head
{
this:
np:hasAssertion
dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_assertion
;
np:hasProvenance
dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_provenance
;
np:hasPublicationInfo
dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_assertion
a
np:Assertion
.
dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_provenance
a
np:Provenance
.
dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_assertion
{
miriam-gene:6323
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGN9aa7dd5ef23b5cfd3df537df3f7cef6d
sio:SIO_000628
miriam-gene:6323
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_provenance
{
dgn-np:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_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:NP1139919.RAcbNR5q8Enf5rTsHqxQDo71WiVAgAo4Dv5lLYQoWNL_U130_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
dgn-void:disgenetv3.0rdf
;
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" .
}