@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4
> .
@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:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_head
{
this:
np:hasAssertion
dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_assertion
;
np:hasProvenance
dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_provenance
;
np:hasPublicationInfo
dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_assertion
a
np:Assertion
.
dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_provenance
a
np:Provenance
.
dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_assertion
{
miriam-gene:5091
a
ncit:C16612
.
lld:C0001125
a
ncit:C7057
.
dgn-gda:DGNc49652cbee9496b5f071d80c64b0d983
sio:SIO_000628
miriam-gene:5091
,
lld:C0001125
;
a
sio:SIO_001121
.
}
dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_provenance
{
dgn-np:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_assertion
dcterms:description
"[This paper describes the molecular characterization of two male siblings displaying the complex (Type B) form of pyruvate carboxylase (PC) deficiency in which severe neonatal lactic acidosis and redox abnormalities results in death within the first few weeks of life.]. 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:12112657
;
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:NP820137.RAq6u5Xtid_paEzN50fWNy4EpRzxQ2AEHpkQ2mwlN7fG4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:22+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" .
}