@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP782047.RAR1b0cDhe7VI3uzw21lBxQlGkz7w3xZWXiLgY6qFzNi0
> .
@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:NP782047.RAR1b0cDhe7VI3uzw21lBxQlGkz7w3xZWXiLgY6qFzNi0130_head
{
this:
np:hasAssertion
dgn-np:NP782047.RAR1b0cDhe7VI3uzw21lBxQlGkz7w3xZWXiLgY6qFzNi0130_assertion
;
np:hasProvenance
dgn-np:NP782047.RAR1b0cDhe7VI3uzw21lBxQlGkz7w3xZWXiLgY6qFzNi0130_provenance
;
np:hasPublicationInfo
dgn-np:NP782047.RAR1b0cDhe7VI3uzw21lBxQlGkz7w3xZWXiLgY6qFzNi0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP782047.RAR1b0cDhe7VI3uzw21lBxQlGkz7w3xZWXiLgY6qFzNi0130_assertion
a
np:Assertion
.
dgn-np:NP782047.RAR1b0cDhe7VI3uzw21lBxQlGkz7w3xZWXiLgY6qFzNi0130_provenance
a
np:Provenance
.
dgn-np:NP782047.RAR1b0cDhe7VI3uzw21lBxQlGkz7w3xZWXiLgY6qFzNi0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP782047.RAR1b0cDhe7VI3uzw21lBxQlGkz7w3xZWXiLgY6qFzNi0130_assertion
{
miriam-gene:8890
a
ncit:C16612
.
lld:C0023520
a
ncit:C7057
.
dgn-gda:DGNbfa52aa2e7d5b486ce14c452b32a7a55
sio:SIO_000628
miriam-gene:8890
,
lld:C0023520
;
a
sio:SIO_001121
.
}
dgn-np:NP782047.RAR1b0cDhe7VI3uzw21lBxQlGkz7w3xZWXiLgY6qFzNi0130_provenance
{
dgn-np:NP782047.RAR1b0cDhe7VI3uzw21lBxQlGkz7w3xZWXiLgY6qFzNi0130_assertion
dcterms:description
"[We performed eIF2B GEF activity assays in cells from 63 patients presenting with different clinical forms and eIF2B mutations in comparison to controls but also to patients with defined leukodystrophies or CACH/VWM-like diseases without eIF2B mutations.]. 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:20016818
;
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:NP782047.RAR1b0cDhe7VI3uzw21lBxQlGkz7w3xZWXiLgY6qFzNi0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:39+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" .
}