@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP213470.RAQFz4Gzay1wRSIJBWmdKkELoAtYAj6Y4lMDu4Yfkk4mQ
> .
@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:NP213470.RAQFz4Gzay1wRSIJBWmdKkELoAtYAj6Y4lMDu4Yfkk4mQ130_head
{
this:
np:hasAssertion
dgn-np:NP213470.RAQFz4Gzay1wRSIJBWmdKkELoAtYAj6Y4lMDu4Yfkk4mQ130_assertion
;
np:hasProvenance
dgn-np:NP213470.RAQFz4Gzay1wRSIJBWmdKkELoAtYAj6Y4lMDu4Yfkk4mQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP213470.RAQFz4Gzay1wRSIJBWmdKkELoAtYAj6Y4lMDu4Yfkk4mQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP213470.RAQFz4Gzay1wRSIJBWmdKkELoAtYAj6Y4lMDu4Yfkk4mQ130_assertion
a
np:Assertion
.
dgn-np:NP213470.RAQFz4Gzay1wRSIJBWmdKkELoAtYAj6Y4lMDu4Yfkk4mQ130_provenance
a
np:Provenance
.
dgn-np:NP213470.RAQFz4Gzay1wRSIJBWmdKkELoAtYAj6Y4lMDu4Yfkk4mQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP213470.RAQFz4Gzay1wRSIJBWmdKkELoAtYAj6Y4lMDu4Yfkk4mQ130_assertion
{
miriam-gene:23064
a
ncit:C16612
.
lld:C0004134
a
ncit:C7057
.
dgn-gda:DGN95eef9775e7fce772493757516bad20b
sio:SIO_000628
miriam-gene:23064
,
lld:C0004134
;
a
sio:SIO_001121
.
}
dgn-np:NP213470.RAQFz4Gzay1wRSIJBWmdKkELoAtYAj6Y4lMDu4Yfkk4mQ130_provenance
{
dgn-np:NP213470.RAQFz4Gzay1wRSIJBWmdKkELoAtYAj6Y4lMDu4Yfkk4mQ130_assertion
dcterms:description
"[We analysed the phenotypic spectrum of 19 AOA2 patients with mutations in SETX, which seems to be the third most frequent form of ARCA in Algeria after Freidreich ataxia and Ataxia with vitamin E deficiency.]. 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:19141356
;
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:NP213470.RAQFz4Gzay1wRSIJBWmdKkELoAtYAj6Y4lMDu4Yfkk4mQ130_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" .
}