@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP215360.RA2jr_TRY5Y1O7l_joj7hhDwN2OJ0ACfkDvf80Y9IMIxk
> .
@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:NP215360.RA2jr_TRY5Y1O7l_joj7hhDwN2OJ0ACfkDvf80Y9IMIxk130_head
{
this:
np:hasAssertion
dgn-np:NP215360.RA2jr_TRY5Y1O7l_joj7hhDwN2OJ0ACfkDvf80Y9IMIxk130_assertion
;
np:hasProvenance
dgn-np:NP215360.RA2jr_TRY5Y1O7l_joj7hhDwN2OJ0ACfkDvf80Y9IMIxk130_provenance
;
np:hasPublicationInfo
dgn-np:NP215360.RA2jr_TRY5Y1O7l_joj7hhDwN2OJ0ACfkDvf80Y9IMIxk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP215360.RA2jr_TRY5Y1O7l_joj7hhDwN2OJ0ACfkDvf80Y9IMIxk130_assertion
a
np:Assertion
.
dgn-np:NP215360.RA2jr_TRY5Y1O7l_joj7hhDwN2OJ0ACfkDvf80Y9IMIxk130_provenance
a
np:Provenance
.
dgn-np:NP215360.RA2jr_TRY5Y1O7l_joj7hhDwN2OJ0ACfkDvf80Y9IMIxk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP215360.RA2jr_TRY5Y1O7l_joj7hhDwN2OJ0ACfkDvf80Y9IMIxk130_assertion
{
miriam-gene:5009
a
ncit:C16612
.
lld:C0268542
a
ncit:C7057
.
dgn-gda:DGN05c8c3cad96e0a9ec011d0911b496b92
sio:SIO_000628
miriam-gene:5009
,
lld:C0268542
;
a
sio:SIO_001121
.
}
dgn-np:NP215360.RA2jr_TRY5Y1O7l_joj7hhDwN2OJ0ACfkDvf80Y9IMIxk130_provenance
{
dgn-np:NP215360.RA2jr_TRY5Y1O7l_joj7hhDwN2OJ0ACfkDvf80Y9IMIxk130_assertion
dcterms:description
"[The high new mutation rate and the wide spectrum of mutations found in patients with ornithine carbamoyltransferase (OCT) deficiency means that direct mutation analysis is essential for providing accurate carrier detection and prenatal diagnosis in affected families.]. 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:11117428
;
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:NP215360.RA2jr_TRY5Y1O7l_joj7hhDwN2OJ0ACfkDvf80Y9IMIxk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:59+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" .
}