@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1286.RAoUPhjRAJUgI6TlBS8UZD2w_7EMDyEe9TZ-hq-3aGS18
> .
@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/v4.0.0/void/
> .
dgn-np:NP1286.RAoUPhjRAJUgI6TlBS8UZD2w_7EMDyEe9TZ-hq-3aGS18130_head
{
this:
np:hasAssertion
dgn-np:NP1286.RAoUPhjRAJUgI6TlBS8UZD2w_7EMDyEe9TZ-hq-3aGS18130_assertion
;
np:hasProvenance
dgn-np:NP1286.RAoUPhjRAJUgI6TlBS8UZD2w_7EMDyEe9TZ-hq-3aGS18130_provenance
;
np:hasPublicationInfo
dgn-np:NP1286.RAoUPhjRAJUgI6TlBS8UZD2w_7EMDyEe9TZ-hq-3aGS18130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1286.RAoUPhjRAJUgI6TlBS8UZD2w_7EMDyEe9TZ-hq-3aGS18130_assertion
a
np:Assertion
.
dgn-np:NP1286.RAoUPhjRAJUgI6TlBS8UZD2w_7EMDyEe9TZ-hq-3aGS18130_provenance
a
np:Provenance
.
dgn-np:NP1286.RAoUPhjRAJUgI6TlBS8UZD2w_7EMDyEe9TZ-hq-3aGS18130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1286.RAoUPhjRAJUgI6TlBS8UZD2w_7EMDyEe9TZ-hq-3aGS18130_assertion
{
miriam-gene:540
a
ncit:C16612
.
lld:C0019202
a
ncit:C7057
.
dgn-gda:DGNaed4fa985098c569bf35f2d8beef6096
sio:SIO_000628
miriam-gene:540
,
lld:C0019202
;
a
sio:SIO_001122
.
}
dgn-np:NP1286.RAoUPhjRAJUgI6TlBS8UZD2w_7EMDyEe9TZ-hq-3aGS18130_provenance
{
dgn-np:NP1286.RAoUPhjRAJUgI6TlBS8UZD2w_7EMDyEe9TZ-hq-3aGS18130_assertion
dcterms:description
"[In this study, we report the further results of an ongoing project on the delineation of the spectrum of mutations on the ATP7B gene in Wilson disease (WD) patients of Greek origin.]. 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:11216666
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
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-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP1286.RAoUPhjRAJUgI6TlBS8UZD2w_7EMDyEe9TZ-hq-3aGS18130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:50+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
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}