@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP3997.RAU12B0G9HbXDxdrtLdeeyl6obltkIF1knyG96vVJS7SE
> .
@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 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:NP3997.RAU12B0G9HbXDxdrtLdeeyl6obltkIF1knyG96vVJS7SE130_head
{
this:
np:hasAssertion
dgn-np:NP3997.RAU12B0G9HbXDxdrtLdeeyl6obltkIF1knyG96vVJS7SE130_assertion
;
np:hasProvenance
dgn-np:NP3997.RAU12B0G9HbXDxdrtLdeeyl6obltkIF1knyG96vVJS7SE130_provenance
;
np:hasPublicationInfo
dgn-np:NP3997.RAU12B0G9HbXDxdrtLdeeyl6obltkIF1knyG96vVJS7SE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP3997.RAU12B0G9HbXDxdrtLdeeyl6obltkIF1knyG96vVJS7SE130_assertion
a
np:Assertion
.
dgn-np:NP3997.RAU12B0G9HbXDxdrtLdeeyl6obltkIF1knyG96vVJS7SE130_provenance
a
np:Provenance
.
dgn-np:NP3997.RAU12B0G9HbXDxdrtLdeeyl6obltkIF1knyG96vVJS7SE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP3997.RAU12B0G9HbXDxdrtLdeeyl6obltkIF1knyG96vVJS7SE130_assertion
{
miriam-gene:4210
a
ncit:C16612
.
lld:C0031069
a
ncit:C7057
.
dgn-gda:DGN40af4d157a0a8999b4357efd75b85919
sio:SIO_000628
miriam-gene:4210
,
lld:C0031069
;
a
sio:SIO_001122
.
}
dgn-np:NP3997.RAU12B0G9HbXDxdrtLdeeyl6obltkIF1knyG96vVJS7SE130_provenance
{
dgn-np:NP3997.RAU12B0G9HbXDxdrtLdeeyl6obltkIF1knyG96vVJS7SE130_assertion
dc:description
"[The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF patients and points out the severity of the M694V frequently observed mutation among these patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:16378925
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP3997.RAU12B0G9HbXDxdrtLdeeyl6obltkIF1knyG96vVJS7SE130_publicationInfo
{
this:
dc:created
"2014-10-02T12:31:59+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc: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" .
}