@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP875793.RAhOKQTmif-9zTdWSeFrTTrUHtX52piLmYkEmPdUoen5o
> .
@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/v4.0.0/void/
> .
dgn-np:NP875793.RAhOKQTmif-9zTdWSeFrTTrUHtX52piLmYkEmPdUoen5o130_head
{
this:
np:hasAssertion
dgn-np:NP875793.RAhOKQTmif-9zTdWSeFrTTrUHtX52piLmYkEmPdUoen5o130_assertion
;
np:hasProvenance
dgn-np:NP875793.RAhOKQTmif-9zTdWSeFrTTrUHtX52piLmYkEmPdUoen5o130_provenance
;
np:hasPublicationInfo
dgn-np:NP875793.RAhOKQTmif-9zTdWSeFrTTrUHtX52piLmYkEmPdUoen5o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP875793.RAhOKQTmif-9zTdWSeFrTTrUHtX52piLmYkEmPdUoen5o130_assertion
a
np:Assertion
.
dgn-np:NP875793.RAhOKQTmif-9zTdWSeFrTTrUHtX52piLmYkEmPdUoen5o130_provenance
a
np:Provenance
.
dgn-np:NP875793.RAhOKQTmif-9zTdWSeFrTTrUHtX52piLmYkEmPdUoen5o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP875793.RAhOKQTmif-9zTdWSeFrTTrUHtX52piLmYkEmPdUoen5o130_assertion
{
miriam-gene:5428
a
ncit:C16612
.
lld:C0007795
a
ncit:C7057
.
dgn-gda:DGN1d46935dd5db8f9c8866c67900c4b73d
sio:SIO_000628
miriam-gene:5428
,
lld:C0007795
;
a
sio:SIO_001121
.
}
dgn-np:NP875793.RAhOKQTmif-9zTdWSeFrTTrUHtX52piLmYkEmPdUoen5o130_provenance
{
dgn-np:NP875793.RAhOKQTmif-9zTdWSeFrTTrUHtX52piLmYkEmPdUoen5o130_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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP875793.RAhOKQTmif-9zTdWSeFrTTrUHtX52piLmYkEmPdUoen5o130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:21+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}