@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP332667.RAZIIB4PSa89Y_tTqkLJspGUpWpYR8c0UZvbhsib4PKcw
> .
@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/v4.0.0/void/
> .
dgn-np:NP332667.RAZIIB4PSa89Y_tTqkLJspGUpWpYR8c0UZvbhsib4PKcw130_head
{
this:
np:hasAssertion
dgn-np:NP332667.RAZIIB4PSa89Y_tTqkLJspGUpWpYR8c0UZvbhsib4PKcw130_assertion
;
np:hasProvenance
dgn-np:NP332667.RAZIIB4PSa89Y_tTqkLJspGUpWpYR8c0UZvbhsib4PKcw130_provenance
;
np:hasPublicationInfo
dgn-np:NP332667.RAZIIB4PSa89Y_tTqkLJspGUpWpYR8c0UZvbhsib4PKcw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP332667.RAZIIB4PSa89Y_tTqkLJspGUpWpYR8c0UZvbhsib4PKcw130_assertion
a
np:Assertion
.
dgn-np:NP332667.RAZIIB4PSa89Y_tTqkLJspGUpWpYR8c0UZvbhsib4PKcw130_provenance
a
np:Provenance
.
dgn-np:NP332667.RAZIIB4PSa89Y_tTqkLJspGUpWpYR8c0UZvbhsib4PKcw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP332667.RAZIIB4PSa89Y_tTqkLJspGUpWpYR8c0UZvbhsib4PKcw130_assertion
{
miriam-gene:2133
a
ncit:C16612
.
lld:C0015306
a
ncit:C7057
.
dgn-gda:DGNb378f9009f433d4f0881c1f7740da54c
sio:SIO_000628
miriam-gene:2133
,
lld:C0015306
;
a
sio:SIO_001121
.
}
dgn-np:NP332667.RAZIIB4PSa89Y_tTqkLJspGUpWpYR8c0UZvbhsib4PKcw130_provenance
{
dgn-np:NP332667.RAZIIB4PSa89Y_tTqkLJspGUpWpYR8c0UZvbhsib4PKcw130_assertion
dcterms:description
"[To identify possible mutations in our previously cloned candidate gene for hereditary multiple exostoses type II (EXT2) in affected members of EXT families so as to confirm that it is the disease-causing gene.]. 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:11593646
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP332667.RAZIIB4PSa89Y_tTqkLJspGUpWpYR8c0UZvbhsib4PKcw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:16+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}