@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310
> .
@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:NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_head
{
this:
np:hasAssertion
dgn-np:NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_assertion
;
np:hasProvenance
dgn-np:NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_provenance
;
np:hasPublicationInfo
dgn-np:NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_assertion
a
np:Assertion
.
dgn-np:NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_provenance
a
np:Provenance
.
dgn-np:NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_assertion
{
miriam-gene:5860
a
ncit:C16612
.
lld:C0751434
a
ncit:C7057
.
dgn-gda:DGN7146c782a88f429179ef7a32cdbc7a2a
sio:SIO_000628
miriam-gene:5860
,
lld:C0751434
;
a
sio:SIO_001121
.
}
dgn-np:NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_provenance
{
dgn-np:NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_assertion
dcterms:description
"[All variants of tetrahydrobiopterin deficiency can be differentiated from the classical phenylketonuria (PKU) by measurement of pterin metabolites in patients' urine, tetrahydrobiopterin loading test, and by dihydropteridine reductase activity in erythrocytes from the Guthrie card.]. 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:8819618
;
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:NP492610.RA3NYpWTUnE7K9T3H9Xm3fp4tzBB__nLS4miL7T7S2310130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:54+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" .
}