@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP647522.RAy7ZNTIxOBsXkRlnQW9_NyYlob9eU0i7dTmGlZGqEhD8
> .
@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:NP647522.RAy7ZNTIxOBsXkRlnQW9_NyYlob9eU0i7dTmGlZGqEhD8130_head
{
this:
np:hasAssertion
dgn-np:NP647522.RAy7ZNTIxOBsXkRlnQW9_NyYlob9eU0i7dTmGlZGqEhD8130_assertion
;
np:hasProvenance
dgn-np:NP647522.RAy7ZNTIxOBsXkRlnQW9_NyYlob9eU0i7dTmGlZGqEhD8130_provenance
;
np:hasPublicationInfo
dgn-np:NP647522.RAy7ZNTIxOBsXkRlnQW9_NyYlob9eU0i7dTmGlZGqEhD8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP647522.RAy7ZNTIxOBsXkRlnQW9_NyYlob9eU0i7dTmGlZGqEhD8130_assertion
a
np:Assertion
.
dgn-np:NP647522.RAy7ZNTIxOBsXkRlnQW9_NyYlob9eU0i7dTmGlZGqEhD8130_provenance
a
np:Provenance
.
dgn-np:NP647522.RAy7ZNTIxOBsXkRlnQW9_NyYlob9eU0i7dTmGlZGqEhD8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP647522.RAy7ZNTIxOBsXkRlnQW9_NyYlob9eU0i7dTmGlZGqEhD8130_assertion
{
miriam-gene:5428
a
ncit:C16612
.
lld:C0038220
a
ncit:C7057
.
dgn-gda:DGNfe2560b71273d3b75e93878e468d2eee
sio:SIO_000628
miriam-gene:5428
,
lld:C0038220
;
a
sio:SIO_001121
.
}
dgn-np:NP647522.RAy7ZNTIxOBsXkRlnQW9_NyYlob9eU0i7dTmGlZGqEhD8130_provenance
{
dgn-np:NP647522.RAy7ZNTIxOBsXkRlnQW9_NyYlob9eU0i7dTmGlZGqEhD8130_assertion
dcterms:description
"[This POLG1 mutation phenotype is characterized by refractory epilepsy with recurrent status epilepticus and episodes of epilepsia partialis continua, which often necessitate admission to the intensive care unit (ICU) and pose an important mortality risk.]. 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:20803213
;
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:NP647522.RAy7ZNTIxOBsXkRlnQW9_NyYlob9eU0i7dTmGlZGqEhD8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:30+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
pav:version
"v2.1.0" .
}