@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP617187.RARwUQkHrRuCK_44W96jAMHGGtjmX8xBawZa8zHybvz5Q
> .
@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 dcterms: <
http://purl.org/dc/terms/
> .
@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:NP617187.RARwUQkHrRuCK_44W96jAMHGGtjmX8xBawZa8zHybvz5Q130_head
{
this:
np:hasAssertion
dgn-np:NP617187.RARwUQkHrRuCK_44W96jAMHGGtjmX8xBawZa8zHybvz5Q130_assertion
;
np:hasProvenance
dgn-np:NP617187.RARwUQkHrRuCK_44W96jAMHGGtjmX8xBawZa8zHybvz5Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP617187.RARwUQkHrRuCK_44W96jAMHGGtjmX8xBawZa8zHybvz5Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP617187.RARwUQkHrRuCK_44W96jAMHGGtjmX8xBawZa8zHybvz5Q130_assertion
a
np:Assertion
.
dgn-np:NP617187.RARwUQkHrRuCK_44W96jAMHGGtjmX8xBawZa8zHybvz5Q130_provenance
a
np:Provenance
.
dgn-np:NP617187.RARwUQkHrRuCK_44W96jAMHGGtjmX8xBawZa8zHybvz5Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP617187.RARwUQkHrRuCK_44W96jAMHGGtjmX8xBawZa8zHybvz5Q130_assertion
{
miriam-gene:5428
a
ncit:C16612
.
lld:C0085605
a
ncit:C7057
.
dgn-gda:DGNd55ca83f304e708842f1a00971204120
sio:SIO_000628
miriam-gene:5428
,
lld:C0085605
;
a
sio:SIO_001121
.
}
dgn-np:NP617187.RARwUQkHrRuCK_44W96jAMHGGtjmX8xBawZa8zHybvz5Q130_provenance
{
dgn-np:NP617187.RARwUQkHrRuCK_44W96jAMHGGtjmX8xBawZa8zHybvz5Q130_assertion
dcterms:description
"[This study emphasizes that genetic testing for POLG mutations in patients with nonsyndromic intractable epilepsies is very important for clinical diagnostics, genetic counseling, and treatment decisions because of the increased risk for VPA-induced liver failure in patients with POLG mutations.]. 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:23448099
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP617187.RARwUQkHrRuCK_44W96jAMHGGtjmX8xBawZa8zHybvz5Q130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:13+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
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"v2.1.0" .
}