@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP50200.RAC-NQGMVsnLQ_azx2T2xb9EP0Aw-Y4mIpTEwuVB3Hy9Q
> .
@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:NP50200.RAC-NQGMVsnLQ_azx2T2xb9EP0Aw-Y4mIpTEwuVB3Hy9Q130_head
{
this:
np:hasAssertion
dgn-np:NP50200.RAC-NQGMVsnLQ_azx2T2xb9EP0Aw-Y4mIpTEwuVB3Hy9Q130_assertion
;
np:hasProvenance
dgn-np:NP50200.RAC-NQGMVsnLQ_azx2T2xb9EP0Aw-Y4mIpTEwuVB3Hy9Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP50200.RAC-NQGMVsnLQ_azx2T2xb9EP0Aw-Y4mIpTEwuVB3Hy9Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP50200.RAC-NQGMVsnLQ_azx2T2xb9EP0Aw-Y4mIpTEwuVB3Hy9Q130_assertion
a
np:Assertion
.
dgn-np:NP50200.RAC-NQGMVsnLQ_azx2T2xb9EP0Aw-Y4mIpTEwuVB3Hy9Q130_provenance
a
np:Provenance
.
dgn-np:NP50200.RAC-NQGMVsnLQ_azx2T2xb9EP0Aw-Y4mIpTEwuVB3Hy9Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP50200.RAC-NQGMVsnLQ_azx2T2xb9EP0Aw-Y4mIpTEwuVB3Hy9Q130_assertion
{
miriam-gene:3064
a
ncit:C16612
.
lld:C0020179
a
ncit:C7057
.
dgn-gda:DGN3c8977931e149cf4eb929233fbeb6b6b
sio:SIO_000628
miriam-gene:3064
,
lld:C0020179
;
a
sio:SIO_001122
.
}
dgn-np:NP50200.RAC-NQGMVsnLQ_azx2T2xb9EP0Aw-Y4mIpTEwuVB3Hy9Q130_provenance
{
dgn-np:NP50200.RAC-NQGMVsnLQ_azx2T2xb9EP0Aw-Y4mIpTEwuVB3Hy9Q130_assertion
dcterms:description
"[The results further support the evidence that the repeat expansion at the chromosome 16q24.3 locus is the direct cause of HDL2 and provide preliminary guidelines for the genetic testing of patients with an HD-like phenotype.]. 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:15468075
;
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:NP50200.RAC-NQGMVsnLQ_azx2T2xb9EP0Aw-Y4mIpTEwuVB3Hy9Q130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:38:07+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" .
}