@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP26500.RABDPp5F2jWap6nGFnhwtywg-cVVWU2uI4tv7Fa7Scp9s
> .
@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 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:NP26500.RABDPp5F2jWap6nGFnhwtywg-cVVWU2uI4tv7Fa7Scp9s130_head
{
this:
np:hasAssertion
dgn-np:NP26500.RABDPp5F2jWap6nGFnhwtywg-cVVWU2uI4tv7Fa7Scp9s130_assertion
;
np:hasProvenance
dgn-np:NP26500.RABDPp5F2jWap6nGFnhwtywg-cVVWU2uI4tv7Fa7Scp9s130_provenance
;
np:hasPublicationInfo
dgn-np:NP26500.RABDPp5F2jWap6nGFnhwtywg-cVVWU2uI4tv7Fa7Scp9s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP26500.RABDPp5F2jWap6nGFnhwtywg-cVVWU2uI4tv7Fa7Scp9s130_assertion
a
np:Assertion
.
dgn-np:NP26500.RABDPp5F2jWap6nGFnhwtywg-cVVWU2uI4tv7Fa7Scp9s130_provenance
a
np:Provenance
.
dgn-np:NP26500.RABDPp5F2jWap6nGFnhwtywg-cVVWU2uI4tv7Fa7Scp9s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP26500.RABDPp5F2jWap6nGFnhwtywg-cVVWU2uI4tv7Fa7Scp9s130_assertion
{
miriam-gene:5428
a
ncit:C16612
.
lld:C0860207
a
ncit:C7057
.
dgn-gda:DGN05eb51a58d80a5888fbed2f6f489e3bb
sio:SIO_000628
miriam-gene:5428
,
lld:C0860207
;
a
sio:SIO_001121
.
}
dgn-np:NP26500.RABDPp5F2jWap6nGFnhwtywg-cVVWU2uI4tv7Fa7Scp9s130_provenance
{
dgn-np:NP26500.RABDPp5F2jWap6nGFnhwtywg-cVVWU2uI4tv7Fa7Scp9s130_assertion
dc:description
"[Our data support an emerging proposal that POLG gene testing should be considered in any child or adolescent who presents or develops intractable seizures with or without status epilepticus or epilepsia partialis continua, particularly when there is a history of psychomotor regression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:20138553
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP26500.RABDPp5F2jWap6nGFnhwtywg-cVVWU2uI4tv7Fa7Scp9s130_publicationInfo
{
this:
dc:created
"2014-10-02T12:32:11+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}