@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP52664.RAXR3erar3uqXtQGOTjdVNXgMww81pHMtfDKj7-0H5Slg
> .
@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:NP52664.RAXR3erar3uqXtQGOTjdVNXgMww81pHMtfDKj7-0H5Slg130_head
{
this:
np:hasAssertion
dgn-np:NP52664.RAXR3erar3uqXtQGOTjdVNXgMww81pHMtfDKj7-0H5Slg130_assertion
;
np:hasProvenance
dgn-np:NP52664.RAXR3erar3uqXtQGOTjdVNXgMww81pHMtfDKj7-0H5Slg130_provenance
;
np:hasPublicationInfo
dgn-np:NP52664.RAXR3erar3uqXtQGOTjdVNXgMww81pHMtfDKj7-0H5Slg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP52664.RAXR3erar3uqXtQGOTjdVNXgMww81pHMtfDKj7-0H5Slg130_assertion
a
np:Assertion
.
dgn-np:NP52664.RAXR3erar3uqXtQGOTjdVNXgMww81pHMtfDKj7-0H5Slg130_provenance
a
np:Provenance
.
dgn-np:NP52664.RAXR3erar3uqXtQGOTjdVNXgMww81pHMtfDKj7-0H5Slg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP52664.RAXR3erar3uqXtQGOTjdVNXgMww81pHMtfDKj7-0H5Slg130_assertion
{
miriam-gene:10544
a
ncit:C16612
.
lld:C0149871
a
ncit:C7057
.
dgn-gda:DGNffb07264c71abbd17ee801db58895ba0
sio:SIO_000628
miriam-gene:10544
,
lld:C0149871
;
a
sio:SIO_001122
.
}
dgn-np:NP52664.RAXR3erar3uqXtQGOTjdVNXgMww81pHMtfDKj7-0H5Slg130_provenance
{
dgn-np:NP52664.RAXR3erar3uqXtQGOTjdVNXgMww81pHMtfDKj7-0H5Slg130_assertion
dcterms:description
"[Previous reports revealed a frequenc of 0-3.6% in different healthy and patient populations. AS the frequency of the insertion is very low in our population, it is difficult to assess its role on the pathogenesis of pediatric thrombosis. Further study including other possible mutations at the gene is needed for the evaluation of its possible effect on pediatric thrombosis.]. 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:12529763
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP52664.RAXR3erar3uqXtQGOTjdVNXgMww81pHMtfDKj7-0H5Slg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:24+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" .
}