@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo
> .
@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:NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_head
{
this:
np:hasAssertion
dgn-np:NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_assertion
;
np:hasProvenance
dgn-np:NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_provenance
;
np:hasPublicationInfo
dgn-np:NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_assertion
a
np:Assertion
.
dgn-np:NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_provenance
a
np:Provenance
.
dgn-np:NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_assertion
{
miriam-gene:2131
a
ncit:C16612
.
lld:C0015306
a
ncit:C7057
.
dgn-gda:DGNaf67b088219203aceed6fff932212599
sio:SIO_000628
miriam-gene:2131
,
lld:C0015306
;
a
sio:SIO_001122
.
}
dgn-np:NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_provenance
{
dgn-np:NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_assertion
dcterms:description
"[Our study of 36 EXT Chinese families has found that EXT1 seems much less common in the Chinese population, although the frequency of the EXT2 mutation is similar in the Caucasian and Chinese populations.]. 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:10480354
;
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:NP371.RAjp5Nn014qKAE5UUTOraVwQqPWCIrd0FBA3ZOT_vKRRo130_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" .
}