@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1135168.RAPvVf1cik5kL7Xev_p5RnsDJpaMVwg6WvPhdHaYrLidk
> .
@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:NP1135168.RAPvVf1cik5kL7Xev_p5RnsDJpaMVwg6WvPhdHaYrLidk130_head
{
this:
np:hasAssertion
dgn-np:NP1135168.RAPvVf1cik5kL7Xev_p5RnsDJpaMVwg6WvPhdHaYrLidk130_assertion
;
np:hasProvenance
dgn-np:NP1135168.RAPvVf1cik5kL7Xev_p5RnsDJpaMVwg6WvPhdHaYrLidk130_provenance
;
np:hasPublicationInfo
dgn-np:NP1135168.RAPvVf1cik5kL7Xev_p5RnsDJpaMVwg6WvPhdHaYrLidk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1135168.RAPvVf1cik5kL7Xev_p5RnsDJpaMVwg6WvPhdHaYrLidk130_assertion
a
np:Assertion
.
dgn-np:NP1135168.RAPvVf1cik5kL7Xev_p5RnsDJpaMVwg6WvPhdHaYrLidk130_provenance
a
np:Provenance
.
dgn-np:NP1135168.RAPvVf1cik5kL7Xev_p5RnsDJpaMVwg6WvPhdHaYrLidk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1135168.RAPvVf1cik5kL7Xev_p5RnsDJpaMVwg6WvPhdHaYrLidk130_assertion
{
miriam-gene:1716
a
ncit:C16612
.
lld:C0342782
a
ncit:C7057
.
dgn-gda:DGNfa4ee8c7286fe1800632255bd1dade3f
sio:SIO_000628
miriam-gene:1716
,
lld:C0342782
;
a
sio:SIO_001121
.
}
dgn-np:NP1135168.RAPvVf1cik5kL7Xev_p5RnsDJpaMVwg6WvPhdHaYrLidk130_provenance
{
dgn-np:NP1135168.RAPvVf1cik5kL7Xev_p5RnsDJpaMVwg6WvPhdHaYrLidk130_assertion
dcterms:description
"[To determine the frequency of mitochondrial DNA depletion syndrome (MDS) in infants with cholestasis and liver failure and to further clarify the clinical, biochemical, radiologic, histopathologic, and molecular features associated with MDS due to deoxyguanosine kinase (DGUOK) and MPV17 gene mutations.]. 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:24321534
;
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:NP1135168.RAPvVf1cik5kL7Xev_p5RnsDJpaMVwg6WvPhdHaYrLidk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:20+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" .
}