@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP148111.RAaygqeItON-DgynBk6OAvz6jwvrrOqAbG2qv_5PajNoA
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
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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#
> .
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{
this:
np:hasAssertion
dgn-np:NP148111.RAaygqeItON-DgynBk6OAvz6jwvrrOqAbG2qv_5PajNoA130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP148111.RAaygqeItON-DgynBk6OAvz6jwvrrOqAbG2qv_5PajNoA130_publicationInfo
;
a
np:Nanopublication
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dgn-np:NP148111.RAaygqeItON-DgynBk6OAvz6jwvrrOqAbG2qv_5PajNoA130_assertion
a
np:Assertion
.
dgn-np:NP148111.RAaygqeItON-DgynBk6OAvz6jwvrrOqAbG2qv_5PajNoA130_provenance
a
np:Provenance
.
dgn-np:NP148111.RAaygqeItON-DgynBk6OAvz6jwvrrOqAbG2qv_5PajNoA130_publicationInfo
a
np:PublicationInfo
.
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dgn-np:NP148111.RAaygqeItON-DgynBk6OAvz6jwvrrOqAbG2qv_5PajNoA130_assertion
{
miriam-gene:3708
a
ncit:C16612
.
lld:C0040822
a
ncit:C7057
.
dgn-gda:DGN94f4df661458aa8cd857d4717612a2f9
sio:SIO_000628
miriam-gene:3708
,
lld:C0040822
;
a
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.
}
dgn-np:NP148111.RAaygqeItON-DgynBk6OAvz6jwvrrOqAbG2qv_5PajNoA130_provenance
{
dgn-np:NP148111.RAaygqeItON-DgynBk6OAvz6jwvrrOqAbG2qv_5PajNoA130_assertion
dcterms:description
"[Our results strongly confirm that ITPR1 is the causative gene for SCA15 and suggest that we need to investigate the point mutation in ITPR1 in the patients with autosomal dominant cerebellar ataxia and tremor.]. 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:18579805
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP148111.RAaygqeItON-DgynBk6OAvz6jwvrrOqAbG2qv_5PajNoA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:17+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
<
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> , <
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> , <
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> ;
pav:createdBy
<
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pav:version
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}