@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP891652.RAHVDmPSffWsVm50UEP8f278uXXFKcS_222XR6HUml2Eg
> .
@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:NP891652.RAHVDmPSffWsVm50UEP8f278uXXFKcS_222XR6HUml2Eg130_head
{
this:
np:hasAssertion
dgn-np:NP891652.RAHVDmPSffWsVm50UEP8f278uXXFKcS_222XR6HUml2Eg130_assertion
;
np:hasProvenance
dgn-np:NP891652.RAHVDmPSffWsVm50UEP8f278uXXFKcS_222XR6HUml2Eg130_provenance
;
np:hasPublicationInfo
dgn-np:NP891652.RAHVDmPSffWsVm50UEP8f278uXXFKcS_222XR6HUml2Eg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP891652.RAHVDmPSffWsVm50UEP8f278uXXFKcS_222XR6HUml2Eg130_assertion
a
np:Assertion
.
dgn-np:NP891652.RAHVDmPSffWsVm50UEP8f278uXXFKcS_222XR6HUml2Eg130_provenance
a
np:Provenance
.
dgn-np:NP891652.RAHVDmPSffWsVm50UEP8f278uXXFKcS_222XR6HUml2Eg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP891652.RAHVDmPSffWsVm50UEP8f278uXXFKcS_222XR6HUml2Eg130_assertion
{
miriam-gene:5805
a
ncit:C16612
.
lld:C0268464
a
ncit:C7057
.
dgn-gda:DGNb7fceba4a969827b07ac2a28c92694df
sio:SIO_000628
miriam-gene:5805
,
lld:C0268464
;
a
sio:SIO_001121
.
}
dgn-np:NP891652.RAHVDmPSffWsVm50UEP8f278uXXFKcS_222XR6HUml2Eg130_provenance
{
dgn-np:NP891652.RAHVDmPSffWsVm50UEP8f278uXXFKcS_222XR6HUml2Eg130_assertion
dcterms:description
"[The PTPS-deficient patient with the homozygous K129E allele had transient hyperphenylalaninemia, did not depend on BH4 replacement therapy, and showed normal PTPS immunoreactivity, but no enzyme activity in primary fibroblasts and red blood cells.]. 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:9222757
;
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:NP891652.RAHVDmPSffWsVm50UEP8f278uXXFKcS_222XR6HUml2Eg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:08+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" .
}