@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP963547.RAtRjKnty1Cl6IywEea2BSZqxOH_yW_1mEF08fmInUzM4
> .
@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/v3.0.0/void/
> .
dgn-np:NP963547.RAtRjKnty1Cl6IywEea2BSZqxOH_yW_1mEF08fmInUzM4130_head
{
this:
np:hasAssertion
dgn-np:NP963547.RAtRjKnty1Cl6IywEea2BSZqxOH_yW_1mEF08fmInUzM4130_assertion
;
np:hasProvenance
dgn-np:NP963547.RAtRjKnty1Cl6IywEea2BSZqxOH_yW_1mEF08fmInUzM4130_provenance
;
np:hasPublicationInfo
dgn-np:NP963547.RAtRjKnty1Cl6IywEea2BSZqxOH_yW_1mEF08fmInUzM4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP963547.RAtRjKnty1Cl6IywEea2BSZqxOH_yW_1mEF08fmInUzM4130_assertion
a
np:Assertion
.
dgn-np:NP963547.RAtRjKnty1Cl6IywEea2BSZqxOH_yW_1mEF08fmInUzM4130_provenance
a
np:Provenance
.
dgn-np:NP963547.RAtRjKnty1Cl6IywEea2BSZqxOH_yW_1mEF08fmInUzM4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP963547.RAtRjKnty1Cl6IywEea2BSZqxOH_yW_1mEF08fmInUzM4130_assertion
{
miriam-gene:112476
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGNe0b9cf201c0056b0d81b61a2afde2bda
sio:SIO_000628
miriam-gene:112476
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP963547.RAtRjKnty1Cl6IywEea2BSZqxOH_yW_1mEF08fmInUzM4130_provenance
{
dgn-np:NP963547.RAtRjKnty1Cl6IywEea2BSZqxOH_yW_1mEF08fmInUzM4130_assertion
dcterms:description
"[This case indicates that the phenotypic spectrum of infantile seizures or epilepsy with PRRT2-related pathology may be larger than previously expected, and that genetic investigation of the effect of PRRT2 mutations on idiopathic seizures or epilepsy in childhood may help elucidate the pathological backgrounds of benign childhood epilepsy.]. 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:23768507
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP963547.RAtRjKnty1Cl6IywEea2BSZqxOH_yW_1mEF08fmInUzM4130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:28+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: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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}