@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP4113.RAgQSexEKrwCjxsbBfI9DJ9ZPRZK0RitezzDuD3UAzJNg
> .
@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 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:NP4113.RAgQSexEKrwCjxsbBfI9DJ9ZPRZK0RitezzDuD3UAzJNg130_head
{
this:
np:hasAssertion
dgn-np:NP4113.RAgQSexEKrwCjxsbBfI9DJ9ZPRZK0RitezzDuD3UAzJNg130_assertion
;
np:hasProvenance
dgn-np:NP4113.RAgQSexEKrwCjxsbBfI9DJ9ZPRZK0RitezzDuD3UAzJNg130_provenance
;
np:hasPublicationInfo
dgn-np:NP4113.RAgQSexEKrwCjxsbBfI9DJ9ZPRZK0RitezzDuD3UAzJNg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP4113.RAgQSexEKrwCjxsbBfI9DJ9ZPRZK0RitezzDuD3UAzJNg130_assertion
a
np:Assertion
.
dgn-np:NP4113.RAgQSexEKrwCjxsbBfI9DJ9ZPRZK0RitezzDuD3UAzJNg130_provenance
a
np:Provenance
.
dgn-np:NP4113.RAgQSexEKrwCjxsbBfI9DJ9ZPRZK0RitezzDuD3UAzJNg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP4113.RAgQSexEKrwCjxsbBfI9DJ9ZPRZK0RitezzDuD3UAzJNg130_assertion
{
miriam-gene:4353
a
ncit:C16612
.
lld:C0398595
a
ncit:C7057
.
dgn-gda:DGNc35960fd2316daedfd09208627a4f172
sio:SIO_000628
miriam-gene:4353
,
lld:C0398595
;
a
sio:SIO_001122
.
}
dgn-np:NP4113.RAgQSexEKrwCjxsbBfI9DJ9ZPRZK0RitezzDuD3UAzJNg130_provenance
{
dgn-np:NP4113.RAgQSexEKrwCjxsbBfI9DJ9ZPRZK0RitezzDuD3UAzJNg130_assertion
dcterms:description
"[We identified a novel missense mutation in the MPO gene at codon 173 whereby tyrosine is replaced with cysteine (Y173C) that is associated with MPO deficiency and assessed its impact on MPO processing and targeting in transfectants expressing normal or mutant proteins.]. 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:9637725
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
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-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP4113.RAgQSexEKrwCjxsbBfI9DJ9ZPRZK0RitezzDuD3UAzJNg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:31:59+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" .
}