@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP474133.RACkXp7eTYnUhANBpifUD2zjfuxsIHefJuxORBoGwdJ0Y
> .
@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:NP474133.RACkXp7eTYnUhANBpifUD2zjfuxsIHefJuxORBoGwdJ0Y130_head
{
this:
np:hasAssertion
dgn-np:NP474133.RACkXp7eTYnUhANBpifUD2zjfuxsIHefJuxORBoGwdJ0Y130_assertion
;
np:hasProvenance
dgn-np:NP474133.RACkXp7eTYnUhANBpifUD2zjfuxsIHefJuxORBoGwdJ0Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP474133.RACkXp7eTYnUhANBpifUD2zjfuxsIHefJuxORBoGwdJ0Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP474133.RACkXp7eTYnUhANBpifUD2zjfuxsIHefJuxORBoGwdJ0Y130_assertion
a
np:Assertion
.
dgn-np:NP474133.RACkXp7eTYnUhANBpifUD2zjfuxsIHefJuxORBoGwdJ0Y130_provenance
a
np:Provenance
.
dgn-np:NP474133.RACkXp7eTYnUhANBpifUD2zjfuxsIHefJuxORBoGwdJ0Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP474133.RACkXp7eTYnUhANBpifUD2zjfuxsIHefJuxORBoGwdJ0Y130_assertion
{
miriam-gene:2521
a
ncit:C16612
.
lld:C0010823
a
ncit:C7057
.
dgn-gda:DGNc403f8aea9368ac53e02ece4e1abad90
sio:SIO_000628
miriam-gene:2521
,
lld:C0010823
;
a
sio:SIO_001121
.
}
dgn-np:NP474133.RACkXp7eTYnUhANBpifUD2zjfuxsIHefJuxORBoGwdJ0Y130_provenance
{
dgn-np:NP474133.RACkXp7eTYnUhANBpifUD2zjfuxsIHefJuxORBoGwdJ0Y130_assertion
dcterms:description
"[This includes the discovery that the pathological changes in atypical FTLD with ubiquitinated inclusions, neuronal intermediate filament inclusion disease, and basophilic inclusion body disease are immunoreactive for the fused in sarcoma (FUS) protein, resulting in the creation of a new molecular subgroup (FTLD-FUS), and studies clarifying the functional consequences of pathogenic CHMP2B mutations.]. 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:21603977
;
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:NP474133.RACkXp7eTYnUhANBpifUD2zjfuxsIHefJuxORBoGwdJ0Y130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:44+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" .
}