@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP680050.RA6xYtHZLPhUXCkfVWHMGeMZ8grRUitDyR6cxe3u9_rzA
> .
@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:NP680050.RA6xYtHZLPhUXCkfVWHMGeMZ8grRUitDyR6cxe3u9_rzA130_head
{
this:
np:hasAssertion
dgn-np:NP680050.RA6xYtHZLPhUXCkfVWHMGeMZ8grRUitDyR6cxe3u9_rzA130_assertion
;
np:hasProvenance
dgn-np:NP680050.RA6xYtHZLPhUXCkfVWHMGeMZ8grRUitDyR6cxe3u9_rzA130_provenance
;
np:hasPublicationInfo
dgn-np:NP680050.RA6xYtHZLPhUXCkfVWHMGeMZ8grRUitDyR6cxe3u9_rzA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP680050.RA6xYtHZLPhUXCkfVWHMGeMZ8grRUitDyR6cxe3u9_rzA130_assertion
a
np:Assertion
.
dgn-np:NP680050.RA6xYtHZLPhUXCkfVWHMGeMZ8grRUitDyR6cxe3u9_rzA130_provenance
a
np:Provenance
.
dgn-np:NP680050.RA6xYtHZLPhUXCkfVWHMGeMZ8grRUitDyR6cxe3u9_rzA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP680050.RA6xYtHZLPhUXCkfVWHMGeMZ8grRUitDyR6cxe3u9_rzA130_assertion
{
miriam-gene:9451
a
ncit:C16612
.
lld:C0035828
a
ncit:C7057
.
dgn-gda:DGNd0aea9507401e663fa9543e7d3372a81
sio:SIO_000628
miriam-gene:9451
,
lld:C0035828
;
a
sio:SIO_001121
.
}
dgn-np:NP680050.RA6xYtHZLPhUXCkfVWHMGeMZ8grRUitDyR6cxe3u9_rzA130_provenance
{
dgn-np:NP680050.RA6xYtHZLPhUXCkfVWHMGeMZ8grRUitDyR6cxe3u9_rzA130_assertion
dcterms:description
"[The patient with no EIF2AK3 involvement did not have any of the other variable clinical manifestations associated with WRS, which supports the idea that the genetic heterogeneity between this variant form of WRS and EIF2AK3 WRS correlates with some clinical heterogeneity.]. 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:15220213
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP680050.RA6xYtHZLPhUXCkfVWHMGeMZ8grRUitDyR6cxe3u9_rzA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:50+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: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" .
}