@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP181852.RAV6sgiWKtb7I6vQGaWy8ZyrYrtU8y2iPUrYWCCk4epNY
> .
@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:NP181852.RAV6sgiWKtb7I6vQGaWy8ZyrYrtU8y2iPUrYWCCk4epNY130_head
{
this:
np:hasAssertion
dgn-np:NP181852.RAV6sgiWKtb7I6vQGaWy8ZyrYrtU8y2iPUrYWCCk4epNY130_assertion
;
np:hasProvenance
dgn-np:NP181852.RAV6sgiWKtb7I6vQGaWy8ZyrYrtU8y2iPUrYWCCk4epNY130_provenance
;
np:hasPublicationInfo
dgn-np:NP181852.RAV6sgiWKtb7I6vQGaWy8ZyrYrtU8y2iPUrYWCCk4epNY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP181852.RAV6sgiWKtb7I6vQGaWy8ZyrYrtU8y2iPUrYWCCk4epNY130_assertion
a
np:Assertion
.
dgn-np:NP181852.RAV6sgiWKtb7I6vQGaWy8ZyrYrtU8y2iPUrYWCCk4epNY130_provenance
a
np:Provenance
.
dgn-np:NP181852.RAV6sgiWKtb7I6vQGaWy8ZyrYrtU8y2iPUrYWCCk4epNY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP181852.RAV6sgiWKtb7I6vQGaWy8ZyrYrtU8y2iPUrYWCCk4epNY130_assertion
{
miriam-gene:203228
a
ncit:C16612
.
lld:C0338451
a
ncit:C7057
.
dgn-gda:DGN8615c9acdaf51e8393878fb0ab018ee4
sio:SIO_000628
miriam-gene:203228
,
lld:C0338451
;
a
sio:SIO_001121
.
}
dgn-np:NP181852.RAV6sgiWKtb7I6vQGaWy8ZyrYrtU8y2iPUrYWCCk4epNY130_provenance
{
dgn-np:NP181852.RAV6sgiWKtb7I6vQGaWy8ZyrYrtU8y2iPUrYWCCk4epNY130_assertion
dcterms:description
"[Here we show that the large Lund pedigree with behavioral variant of frontotemporal dementia previously described with this disorder has an expansion in the recently described C9ORF72 locus on chromosome 9.]. 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:22483864
;
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:NP181852.RAV6sgiWKtb7I6vQGaWy8ZyrYrtU8y2iPUrYWCCk4epNY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:38+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" .
}