@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP449603.RATBs2S851VB9Dq0wL0tAiewuc0q4BmM3smMv29udJmsU
> .
@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:NP449603.RATBs2S851VB9Dq0wL0tAiewuc0q4BmM3smMv29udJmsU130_head
{
this:
np:hasAssertion
dgn-np:NP449603.RATBs2S851VB9Dq0wL0tAiewuc0q4BmM3smMv29udJmsU130_assertion
;
np:hasProvenance
dgn-np:NP449603.RATBs2S851VB9Dq0wL0tAiewuc0q4BmM3smMv29udJmsU130_provenance
;
np:hasPublicationInfo
dgn-np:NP449603.RATBs2S851VB9Dq0wL0tAiewuc0q4BmM3smMv29udJmsU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP449603.RATBs2S851VB9Dq0wL0tAiewuc0q4BmM3smMv29udJmsU130_assertion
a
np:Assertion
.
dgn-np:NP449603.RATBs2S851VB9Dq0wL0tAiewuc0q4BmM3smMv29udJmsU130_provenance
a
np:Provenance
.
dgn-np:NP449603.RATBs2S851VB9Dq0wL0tAiewuc0q4BmM3smMv29udJmsU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP449603.RATBs2S851VB9Dq0wL0tAiewuc0q4BmM3smMv29udJmsU130_assertion
{
miriam-gene:5428
a
ncit:C16612
.
lld:C0014038
a
ncit:C7057
.
dgn-gda:DGN8f75fc69c86185d3864b79cb68481e1a
sio:SIO_000628
miriam-gene:5428
,
lld:C0014038
;
a
sio:SIO_001121
.
}
dgn-np:NP449603.RATBs2S851VB9Dq0wL0tAiewuc0q4BmM3smMv29udJmsU130_provenance
{
dgn-np:NP449603.RATBs2S851VB9Dq0wL0tAiewuc0q4BmM3smMv29udJmsU130_assertion
dcterms:description
"[POLG1 analysis should belong to the first-line DNA diagnostic tests for children with an encephalitis-like presentation evolving into epileptic encephalopathy with liver involvement (Alpers syndrome), even if brain MRI and morphology, respiratory chain activities, and the amount of mitochondrial DNA in the skeletal muscle are normal.]. 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:21357833
;
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:NP449603.RATBs2S851VB9Dq0wL0tAiewuc0q4BmM3smMv29udJmsU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:28+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: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" .
}