@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8
> .
@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:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_head
{
this:
np:hasAssertion
dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_assertion
;
np:hasProvenance
dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_provenance
;
np:hasPublicationInfo
dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_assertion
a
np:Assertion
.
dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_provenance
a
np:Provenance
.
dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_assertion
{
miriam-gene:7852
a
ncit:C16612
.
lld:C1846064
a
ncit:C7057
.
dgn-gda:DGNedbb321a9655990a323e4df7d03e0540
sio:SIO_000628
miriam-gene:7852
,
lld:C1846064
;
a
sio:SIO_001121
.
}
dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_provenance
{
dgn-np:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_assertion
dcterms:description
"[A 27-year-old mother of two children has been suffering from severe neutropenia and recurrent infections with the diagnosis of sporadic WHIM syndrome established by sequencing the CXCR4 gene and the finding of a heterozygous 1000 C-->T nonsense mutation in the second CXCR4 exon.]. 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:19043667
;
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:NP213295.RA74izOacqTY60vOAGhOvTG5w1asNDTUxDI3QrhWFa-J8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:58+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" .
}