@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP232313.RAQJBXJdSBDqOTFfUUwC8Jqjth5BvDy-siWxQsVUrgTog
> .
@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:NP232313.RAQJBXJdSBDqOTFfUUwC8Jqjth5BvDy-siWxQsVUrgTog130_head
{
this:
np:hasAssertion
dgn-np:NP232313.RAQJBXJdSBDqOTFfUUwC8Jqjth5BvDy-siWxQsVUrgTog130_assertion
;
np:hasProvenance
dgn-np:NP232313.RAQJBXJdSBDqOTFfUUwC8Jqjth5BvDy-siWxQsVUrgTog130_provenance
;
np:hasPublicationInfo
dgn-np:NP232313.RAQJBXJdSBDqOTFfUUwC8Jqjth5BvDy-siWxQsVUrgTog130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP232313.RAQJBXJdSBDqOTFfUUwC8Jqjth5BvDy-siWxQsVUrgTog130_assertion
a
np:Assertion
.
dgn-np:NP232313.RAQJBXJdSBDqOTFfUUwC8Jqjth5BvDy-siWxQsVUrgTog130_provenance
a
np:Provenance
.
dgn-np:NP232313.RAQJBXJdSBDqOTFfUUwC8Jqjth5BvDy-siWxQsVUrgTog130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP232313.RAQJBXJdSBDqOTFfUUwC8Jqjth5BvDy-siWxQsVUrgTog130_assertion
{
miriam-gene:4061
a
ncit:C16612
.
lld:C0016719
a
ncit:C7057
.
dgn-gda:DGN764f8c995439371897a065459365376c
sio:SIO_000628
miriam-gene:4061
,
lld:C0016719
;
a
sio:SIO_001121
.
}
dgn-np:NP232313.RAQJBXJdSBDqOTFfUUwC8Jqjth5BvDy-siWxQsVUrgTog130_provenance
{
dgn-np:NP232313.RAQJBXJdSBDqOTFfUUwC8Jqjth5BvDy-siWxQsVUrgTog130_assertion
dcterms:description
"[The authors found allele sizes within the proposed pathogenic range in three patients with ataxia of unknown etiology, in two individuals from pedigrees with either SCA2 or Friedreich's ataxia, and in two patients with Alzheimer's disease.]. 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:11591855
;
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:NP232313.RAQJBXJdSBDqOTFfUUwC8Jqjth5BvDy-siWxQsVUrgTog130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:10+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" .
}