@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP17327.RAeoeWC0BK7QxUWd6sjwBM3ENsaFUHjpQUVMUHscf2sk8
> .
@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:NP17327.RAeoeWC0BK7QxUWd6sjwBM3ENsaFUHjpQUVMUHscf2sk8130_head
{
this:
np:hasAssertion
dgn-np:NP17327.RAeoeWC0BK7QxUWd6sjwBM3ENsaFUHjpQUVMUHscf2sk8130_assertion
;
np:hasProvenance
dgn-np:NP17327.RAeoeWC0BK7QxUWd6sjwBM3ENsaFUHjpQUVMUHscf2sk8130_provenance
;
np:hasPublicationInfo
dgn-np:NP17327.RAeoeWC0BK7QxUWd6sjwBM3ENsaFUHjpQUVMUHscf2sk8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP17327.RAeoeWC0BK7QxUWd6sjwBM3ENsaFUHjpQUVMUHscf2sk8130_assertion
a
np:Assertion
.
dgn-np:NP17327.RAeoeWC0BK7QxUWd6sjwBM3ENsaFUHjpQUVMUHscf2sk8130_provenance
a
np:Provenance
.
dgn-np:NP17327.RAeoeWC0BK7QxUWd6sjwBM3ENsaFUHjpQUVMUHscf2sk8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP17327.RAeoeWC0BK7QxUWd6sjwBM3ENsaFUHjpQUVMUHscf2sk8130_assertion
{
miriam-gene:2896
a
ncit:C16612
.
lld:C0497327
a
ncit:C7057
.
dgn-gda:DGN45a70e2dfa87b3be9ee8ffcf99a1223e
sio:SIO_000628
miriam-gene:2896
,
lld:C0497327
;
a
sio:SIO_001121
.
}
dgn-np:NP17327.RAeoeWC0BK7QxUWd6sjwBM3ENsaFUHjpQUVMUHscf2sk8130_provenance
{
dgn-np:NP17327.RAeoeWC0BK7QxUWd6sjwBM3ENsaFUHjpQUVMUHscf2sk8130_assertion
dcterms:description
"[We looked for PGRN mutations in a large series of 210 FTD patients (52 familial, 158 sporadic) to accurately evaluate the frequency of PGRN mutations in both sporadic and familial FTD, and FTD with associated motoneuron disease (FTD-MND), as well as to study the clinical phenotype of patients with a PGRN mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:17436289
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP17327.RAeoeWC0BK7QxUWd6sjwBM3ENsaFUHjpQUVMUHscf2sk8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:06+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" .
}