@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP135777.RA7yhWqBsuRsf8FXqZ3MgEcGCve12yjQI2oQfhoUx3Z94
> .
@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:NP135777.RA7yhWqBsuRsf8FXqZ3MgEcGCve12yjQI2oQfhoUx3Z94130_head
{
this:
np:hasAssertion
dgn-np:NP135777.RA7yhWqBsuRsf8FXqZ3MgEcGCve12yjQI2oQfhoUx3Z94130_assertion
;
np:hasProvenance
dgn-np:NP135777.RA7yhWqBsuRsf8FXqZ3MgEcGCve12yjQI2oQfhoUx3Z94130_provenance
;
np:hasPublicationInfo
dgn-np:NP135777.RA7yhWqBsuRsf8FXqZ3MgEcGCve12yjQI2oQfhoUx3Z94130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP135777.RA7yhWqBsuRsf8FXqZ3MgEcGCve12yjQI2oQfhoUx3Z94130_assertion
a
np:Assertion
.
dgn-np:NP135777.RA7yhWqBsuRsf8FXqZ3MgEcGCve12yjQI2oQfhoUx3Z94130_provenance
a
np:Provenance
.
dgn-np:NP135777.RA7yhWqBsuRsf8FXqZ3MgEcGCve12yjQI2oQfhoUx3Z94130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP135777.RA7yhWqBsuRsf8FXqZ3MgEcGCve12yjQI2oQfhoUx3Z94130_assertion
{
miriam-gene:5897
a
ncit:C16612
.
lld:C0085110
a
ncit:C7057
.
dgn-gda:DGNca0b7d4b52d67d1cd199ff8117827a19
sio:SIO_000628
miriam-gene:5897
,
lld:C0085110
;
a
sio:SIO_001122
.
}
dgn-np:NP135777.RA7yhWqBsuRsf8FXqZ3MgEcGCve12yjQI2oQfhoUx3Z94130_provenance
{
dgn-np:NP135777.RA7yhWqBsuRsf8FXqZ3MgEcGCve12yjQI2oQfhoUx3Z94130_assertion
dcterms:description
"[A knockin murine model carrying the Rag2 R229Q mutation previously described in several patients with Omenn syndrome (OS) supports the notion that impaired immune tolerance and defective immune regulation are involved in the pathophysiology of OS.]. 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:17476358
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP135777.RA7yhWqBsuRsf8FXqZ3MgEcGCve12yjQI2oQfhoUx3Z94130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:10+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" .
}