@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP867233.RAC_7dQO98Syab89aw-GmsqPqv3NHxbfbeU0xP3ntaMRY
> .
@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:NP867233.RAC_7dQO98Syab89aw-GmsqPqv3NHxbfbeU0xP3ntaMRY130_head
{
this:
np:hasAssertion
dgn-np:NP867233.RAC_7dQO98Syab89aw-GmsqPqv3NHxbfbeU0xP3ntaMRY130_assertion
;
np:hasProvenance
dgn-np:NP867233.RAC_7dQO98Syab89aw-GmsqPqv3NHxbfbeU0xP3ntaMRY130_provenance
;
np:hasPublicationInfo
dgn-np:NP867233.RAC_7dQO98Syab89aw-GmsqPqv3NHxbfbeU0xP3ntaMRY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP867233.RAC_7dQO98Syab89aw-GmsqPqv3NHxbfbeU0xP3ntaMRY130_assertion
a
np:Assertion
.
dgn-np:NP867233.RAC_7dQO98Syab89aw-GmsqPqv3NHxbfbeU0xP3ntaMRY130_provenance
a
np:Provenance
.
dgn-np:NP867233.RAC_7dQO98Syab89aw-GmsqPqv3NHxbfbeU0xP3ntaMRY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP867233.RAC_7dQO98Syab89aw-GmsqPqv3NHxbfbeU0xP3ntaMRY130_assertion
{
miriam-gene:5428
a
ncit:C16612
.
lld:C0037019
a
ncit:C7057
.
dgn-gda:DGNb29dea7159f79bc2ae0626023a6ba862
sio:SIO_000628
miriam-gene:5428
,
lld:C0037019
;
a
sio:SIO_001121
.
}
dgn-np:NP867233.RAC_7dQO98Syab89aw-GmsqPqv3NHxbfbeU0xP3ntaMRY130_provenance
{
dgn-np:NP867233.RAC_7dQO98Syab89aw-GmsqPqv3NHxbfbeU0xP3ntaMRY130_assertion
dcterms:description
"[This case expands the spectrum of phenotypes associated with POLG1 mutations to include multiple system atrophy and prompts further consideration regarding whether routine screening for POLG1 mutations is indicated in this patient population.]. 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:21259344
;
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:NP867233.RAC_7dQO98Syab89aw-GmsqPqv3NHxbfbeU0xP3ntaMRY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:17+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" .
}