@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP56454.RAQQ-q4m-khcAhwfI2DtcgJVw5qpmetKIFmFiz6AGxlWs
> .
@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/v3.0.0/void/
> .
dgn-np:NP56454.RAQQ-q4m-khcAhwfI2DtcgJVw5qpmetKIFmFiz6AGxlWs130_head
{
this:
np:hasAssertion
dgn-np:NP56454.RAQQ-q4m-khcAhwfI2DtcgJVw5qpmetKIFmFiz6AGxlWs130_assertion
;
np:hasProvenance
dgn-np:NP56454.RAQQ-q4m-khcAhwfI2DtcgJVw5qpmetKIFmFiz6AGxlWs130_provenance
;
np:hasPublicationInfo
dgn-np:NP56454.RAQQ-q4m-khcAhwfI2DtcgJVw5qpmetKIFmFiz6AGxlWs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP56454.RAQQ-q4m-khcAhwfI2DtcgJVw5qpmetKIFmFiz6AGxlWs130_assertion
a
np:Assertion
.
dgn-np:NP56454.RAQQ-q4m-khcAhwfI2DtcgJVw5qpmetKIFmFiz6AGxlWs130_provenance
a
np:Provenance
.
dgn-np:NP56454.RAQQ-q4m-khcAhwfI2DtcgJVw5qpmetKIFmFiz6AGxlWs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP56454.RAQQ-q4m-khcAhwfI2DtcgJVw5qpmetKIFmFiz6AGxlWs130_assertion
{
miriam-gene:114548
a
ncit:C16612
.
lld:C0031069
a
ncit:C7057
.
dgn-gda:DGNa8c88f9689fc27619e01400ad91a516c
sio:SIO_000628
miriam-gene:114548
,
lld:C0031069
;
a
sio:SIO_001122
.
}
dgn-np:NP56454.RAQQ-q4m-khcAhwfI2DtcgJVw5qpmetKIFmFiz6AGxlWs130_provenance
{
dgn-np:NP56454.RAQQ-q4m-khcAhwfI2DtcgJVw5qpmetKIFmFiz6AGxlWs130_assertion
dcterms:description
"[ Screening of highly prevalent mutations in known genes involved in these disorders does not yield additional relevant information. Differential diagnosis of hereditary autoinflammatory syndromes can be made by thorough clinical examination followed by ta]. 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:16234278
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP56454.RAQQ-q4m-khcAhwfI2DtcgJVw5qpmetKIFmFiz6AGxlWs130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:38:10+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: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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}