@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP685035.RAIqqKOsX2NxR0gRHfZ6_SZ0qNRGnQgIUT3bPsdJCickY
> .
@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:NP685035.RAIqqKOsX2NxR0gRHfZ6_SZ0qNRGnQgIUT3bPsdJCickY130_head
{
this:
np:hasAssertion
dgn-np:NP685035.RAIqqKOsX2NxR0gRHfZ6_SZ0qNRGnQgIUT3bPsdJCickY130_assertion
;
np:hasProvenance
dgn-np:NP685035.RAIqqKOsX2NxR0gRHfZ6_SZ0qNRGnQgIUT3bPsdJCickY130_provenance
;
np:hasPublicationInfo
dgn-np:NP685035.RAIqqKOsX2NxR0gRHfZ6_SZ0qNRGnQgIUT3bPsdJCickY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP685035.RAIqqKOsX2NxR0gRHfZ6_SZ0qNRGnQgIUT3bPsdJCickY130_assertion
a
np:Assertion
.
dgn-np:NP685035.RAIqqKOsX2NxR0gRHfZ6_SZ0qNRGnQgIUT3bPsdJCickY130_provenance
a
np:Provenance
.
dgn-np:NP685035.RAIqqKOsX2NxR0gRHfZ6_SZ0qNRGnQgIUT3bPsdJCickY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP685035.RAIqqKOsX2NxR0gRHfZ6_SZ0qNRGnQgIUT3bPsdJCickY130_assertion
{
miriam-gene:5428
a
ncit:C16612
.
lld:C0001125
a
ncit:C7057
.
dgn-gda:DGN5f227699287bcb2dd658a7b294d07ccf
sio:SIO_000628
miriam-gene:5428
,
lld:C0001125
;
a
sio:SIO_001121
.
}
dgn-np:NP685035.RAIqqKOsX2NxR0gRHfZ6_SZ0qNRGnQgIUT3bPsdJCickY130_provenance
{
dgn-np:NP685035.RAIqqKOsX2NxR0gRHfZ6_SZ0qNRGnQgIUT3bPsdJCickY130_assertion
dcterms:description
"[Our data further expand the spectrum of POLG1 gene mutations and the unique phenotype reported (late onset isolated liver disease without lactic acidosis) increase the variability of clinical presentations associated with mutations in this gene.]. 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:19195941
;
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:NP685035.RAIqqKOsX2NxR0gRHfZ6_SZ0qNRGnQgIUT3bPsdJCickY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:56+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" .
}