@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP152742.RACsndCVsfVomJPV2hU3aCrVCB45dRrBU3Ta-SbHkrSe8
> .
@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:NP152742.RACsndCVsfVomJPV2hU3aCrVCB45dRrBU3Ta-SbHkrSe8130_head
{
this:
np:hasAssertion
dgn-np:NP152742.RACsndCVsfVomJPV2hU3aCrVCB45dRrBU3Ta-SbHkrSe8130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP152742.RACsndCVsfVomJPV2hU3aCrVCB45dRrBU3Ta-SbHkrSe8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP152742.RACsndCVsfVomJPV2hU3aCrVCB45dRrBU3Ta-SbHkrSe8130_assertion
a
np:Assertion
.
dgn-np:NP152742.RACsndCVsfVomJPV2hU3aCrVCB45dRrBU3Ta-SbHkrSe8130_provenance
a
np:Provenance
.
dgn-np:NP152742.RACsndCVsfVomJPV2hU3aCrVCB45dRrBU3Ta-SbHkrSe8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP152742.RACsndCVsfVomJPV2hU3aCrVCB45dRrBU3Ta-SbHkrSe8130_assertion
{
miriam-gene:4669
a
ncit:C16612
.
lld:C0026703
a
ncit:C7057
.
dgn-gda:DGNfee85cf68bb8bc677888c54a248abb52
sio:SIO_000628
miriam-gene:4669
,
lld:C0026703
;
a
sio:SIO_001122
.
}
dgn-np:NP152742.RACsndCVsfVomJPV2hU3aCrVCB45dRrBU3Ta-SbHkrSe8130_provenance
{
dgn-np:NP152742.RACsndCVsfVomJPV2hU3aCrVCB45dRrBU3Ta-SbHkrSe8130_assertion
dcterms:description
"[The NAGLU gene in 11 Mucopolysaccharidosis type IIIB Portuguese patients, was examined, having identified five novel (M1K, W147X, G304V, S522P, and R533X) and four previously reported mutations (W168X, R234C, R565W and R643C).]. 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:18218046
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP152742.RACsndCVsfVomJPV2hU3aCrVCB45dRrBU3Ta-SbHkrSe8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:21+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
<
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> , <
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" .
}