@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP314553.RA5STQoCJH8Nh8QotWBFf5O-N0yyODpgUGNKGLKJ52-Vs
> .
@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:NP314553.RA5STQoCJH8Nh8QotWBFf5O-N0yyODpgUGNKGLKJ52-Vs130_head
{
this:
np:hasAssertion
dgn-np:NP314553.RA5STQoCJH8Nh8QotWBFf5O-N0yyODpgUGNKGLKJ52-Vs130_assertion
;
np:hasProvenance
dgn-np:NP314553.RA5STQoCJH8Nh8QotWBFf5O-N0yyODpgUGNKGLKJ52-Vs130_provenance
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np:hasPublicationInfo
dgn-np:NP314553.RA5STQoCJH8Nh8QotWBFf5O-N0yyODpgUGNKGLKJ52-Vs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP314553.RA5STQoCJH8Nh8QotWBFf5O-N0yyODpgUGNKGLKJ52-Vs130_assertion
a
np:Assertion
.
dgn-np:NP314553.RA5STQoCJH8Nh8QotWBFf5O-N0yyODpgUGNKGLKJ52-Vs130_provenance
a
np:Provenance
.
dgn-np:NP314553.RA5STQoCJH8Nh8QotWBFf5O-N0yyODpgUGNKGLKJ52-Vs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP314553.RA5STQoCJH8Nh8QotWBFf5O-N0yyODpgUGNKGLKJ52-Vs130_assertion
{
miriam-gene:55737
a
ncit:C16612
.
lld:C3489791
a
ncit:C7057
.
dgn-gda:DGN400d22307b2db852ec44cbe0a58bd4ed
sio:SIO_000628
miriam-gene:55737
,
lld:C3489791
;
a
sio:SIO_001121
.
}
dgn-np:NP314553.RA5STQoCJH8Nh8QotWBFf5O-N0yyODpgUGNKGLKJ52-Vs130_provenance
{
dgn-np:NP314553.RA5STQoCJH8Nh8QotWBFf5O-N0yyODpgUGNKGLKJ52-Vs130_assertion
dcterms:description
"[In order to assess the frequency of the reported mutation and to search for other possible disease-causing variants in this gene, we sequenced all 17 exons of VPS35 in 96 familial PD cases, and exon 15 (in which the reported mutation is found) in an additional 64 familial PD cases, 175 young-onset PD cases, and 262 sporadic, neuropathologically confirmed PD cases.]. 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:22154191
;
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:NP314553.RA5STQoCJH8Nh8QotWBFf5O-N0yyODpgUGNKGLKJ52-Vs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:00+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
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"v2.1.0" .
}