@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50
> .
@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:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_head
{
this:
np:hasAssertion
dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_assertion
;
np:hasProvenance
dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_provenance
;
np:hasPublicationInfo
dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_assertion
a
np:Assertion
.
dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_provenance
a
np:Provenance
.
dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_assertion
{
miriam-gene:6786
a
ncit:C16612
.
lld:C1861451
a
ncit:C7057
.
dgn-gda:DGNaea6bc3610753f3fef938a5d3f653bca
sio:SIO_000628
miriam-gene:6786
,
lld:C1861451
;
a
sio:SIO_001122
.
}
dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_provenance
{
dgn-np:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_assertion
dcterms:description
"[Heterologous expression of STIM1 p.R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome.]. 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:24591628
;
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:NP1160094.RAKudFFG_HQfFSvrfD8CCkXKlplBwJ6MQcD4aGBzeGi50130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:32+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" .
}