@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1123.RAbONCiFzQUBEsfewhj8iYABH1MiPZofSPeoC5Sz4gfFY
> .
@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 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:NP1123.RAbONCiFzQUBEsfewhj8iYABH1MiPZofSPeoC5Sz4gfFY130_head
{
this:
np:hasAssertion
dgn-np:NP1123.RAbONCiFzQUBEsfewhj8iYABH1MiPZofSPeoC5Sz4gfFY130_assertion
;
np:hasProvenance
dgn-np:NP1123.RAbONCiFzQUBEsfewhj8iYABH1MiPZofSPeoC5Sz4gfFY130_provenance
;
np:hasPublicationInfo
dgn-np:NP1123.RAbONCiFzQUBEsfewhj8iYABH1MiPZofSPeoC5Sz4gfFY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1123.RAbONCiFzQUBEsfewhj8iYABH1MiPZofSPeoC5Sz4gfFY130_assertion
a
np:Assertion
.
dgn-np:NP1123.RAbONCiFzQUBEsfewhj8iYABH1MiPZofSPeoC5Sz4gfFY130_provenance
a
np:Provenance
.
dgn-np:NP1123.RAbONCiFzQUBEsfewhj8iYABH1MiPZofSPeoC5Sz4gfFY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1123.RAbONCiFzQUBEsfewhj8iYABH1MiPZofSPeoC5Sz4gfFY130_assertion
{
miriam-gene:7389
a
ncit:C16612
.
lld:C1421374
a
ncit:C7057
.
dgn-gda:DGNc13e9e23a5e78be917de3d809124a450
sio:SIO_000628
miriam-gene:7389
,
lld:C1421374
;
a
sio:SIO_001122
.
}
dgn-np:NP1123.RAbONCiFzQUBEsfewhj8iYABH1MiPZofSPeoC5Sz4gfFY130_provenance
{
dgn-np:NP1123.RAbONCiFzQUBEsfewhj8iYABH1MiPZofSPeoC5Sz4gfFY130_assertion
dc:description
"[The DGGE assay presented greatly improves the genetic diagnosis of fPCT and HEP, thereby facilitating the detection of familial UROD deficient patients as well as the discrimination between familial and sporadic PCT cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:10477430
;
prov:wasDerivedFrom
dgn-void:uniprot-20150221
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
}
dgn-np:NP1123.RAbONCiFzQUBEsfewhj8iYABH1MiPZofSPeoC5Sz4gfFY130_publicationInfo
{
this:
dc:created
"2015-08-25T14:37:42+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}