@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP661692.RAPjfsTL1Kzrlkpx1g7CcfOld3o8RNX-y9AKs0zzbqITs
> .
@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/v3.0.0/void/
> .
dgn-np:NP661692.RAPjfsTL1Kzrlkpx1g7CcfOld3o8RNX-y9AKs0zzbqITs130_head
{
this:
np:hasAssertion
dgn-np:NP661692.RAPjfsTL1Kzrlkpx1g7CcfOld3o8RNX-y9AKs0zzbqITs130_assertion
;
np:hasProvenance
dgn-np:NP661692.RAPjfsTL1Kzrlkpx1g7CcfOld3o8RNX-y9AKs0zzbqITs130_provenance
;
np:hasPublicationInfo
dgn-np:NP661692.RAPjfsTL1Kzrlkpx1g7CcfOld3o8RNX-y9AKs0zzbqITs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP661692.RAPjfsTL1Kzrlkpx1g7CcfOld3o8RNX-y9AKs0zzbqITs130_assertion
a
np:Assertion
.
dgn-np:NP661692.RAPjfsTL1Kzrlkpx1g7CcfOld3o8RNX-y9AKs0zzbqITs130_provenance
a
np:Provenance
.
dgn-np:NP661692.RAPjfsTL1Kzrlkpx1g7CcfOld3o8RNX-y9AKs0zzbqITs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP661692.RAPjfsTL1Kzrlkpx1g7CcfOld3o8RNX-y9AKs0zzbqITs130_assertion
{
miriam-gene:5805
a
ncit:C16612
.
lld:C0268464
a
ncit:C7057
.
dgn-gda:DGN906f85c55d92f9e23cdce665f21ba96d
sio:SIO_000628
miriam-gene:5805
,
lld:C0268464
;
a
sio:SIO_001122
.
}
dgn-np:NP661692.RAPjfsTL1Kzrlkpx1g7CcfOld3o8RNX-y9AKs0zzbqITs130_provenance
{
dgn-np:NP661692.RAPjfsTL1Kzrlkpx1g7CcfOld3o8RNX-y9AKs0zzbqITs130_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-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP661692.RAPjfsTL1Kzrlkpx1g7CcfOld3o8RNX-y9AKs0zzbqITs130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:17+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}