@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ
> .
@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:NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_head
{
this:
np:hasAssertion
dgn-np:NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_assertion
;
np:hasProvenance
dgn-np:NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_assertion
a
np:Assertion
.
dgn-np:NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_provenance
a
np:Provenance
.
dgn-np:NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_assertion
{
miriam-gene:8892
a
ncit:C16612
.
lld:C0018798
a
ncit:C7057
.
dgn-gda:DGN2d1fefcd2b31770a266b0854296edf52
sio:SIO_000628
miriam-gene:8892
,
lld:C0018798
;
a
sio:SIO_001121
.
}
dgn-np:NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_provenance
{
dgn-np:NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_assertion
dcterms:description
"[In the present case, the defect EIF2B2 caused by hemizygosity may be related to early onset of the disease and the unusual pathological changes with vulnerability of oligodendrocytes and astrocytes, as well as cardiac abnormalities and sudden unexpected death.]. 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:25031760
;
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:NP1202132.RAlB8x5Znx2JDMPf6x41nzr6fudM9dgm2WvcknQrdXeXQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:50+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
<
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" .
}