@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP729004.RAROcY6Zc_vZzXVJBcG9dxswP4Z9I-cdDBPfBQHvRO_Es
> .
@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:NP729004.RAROcY6Zc_vZzXVJBcG9dxswP4Z9I-cdDBPfBQHvRO_Es130_head
{
this:
np:hasAssertion
dgn-np:NP729004.RAROcY6Zc_vZzXVJBcG9dxswP4Z9I-cdDBPfBQHvRO_Es130_assertion
;
np:hasProvenance
dgn-np:NP729004.RAROcY6Zc_vZzXVJBcG9dxswP4Z9I-cdDBPfBQHvRO_Es130_provenance
;
np:hasPublicationInfo
dgn-np:NP729004.RAROcY6Zc_vZzXVJBcG9dxswP4Z9I-cdDBPfBQHvRO_Es130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP729004.RAROcY6Zc_vZzXVJBcG9dxswP4Z9I-cdDBPfBQHvRO_Es130_assertion
a
np:Assertion
.
dgn-np:NP729004.RAROcY6Zc_vZzXVJBcG9dxswP4Z9I-cdDBPfBQHvRO_Es130_provenance
a
np:Provenance
.
dgn-np:NP729004.RAROcY6Zc_vZzXVJBcG9dxswP4Z9I-cdDBPfBQHvRO_Es130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP729004.RAROcY6Zc_vZzXVJBcG9dxswP4Z9I-cdDBPfBQHvRO_Es130_assertion
{
miriam-gene:4000
a
ncit:C16612
.
lld:C0004153
a
ncit:C7057
.
dgn-gda:DGN8eb9c63d19e8eb09795e71b8e9e775e9
sio:SIO_000628
miriam-gene:4000
,
lld:C0004153
;
a
sio:SIO_001121
.
}
dgn-np:NP729004.RAROcY6Zc_vZzXVJBcG9dxswP4Z9I-cdDBPfBQHvRO_Es130_provenance
{
dgn-np:NP729004.RAROcY6Zc_vZzXVJBcG9dxswP4Z9I-cdDBPfBQHvRO_Es130_assertion
dcterms:description
"[We report on a familial case of atypical Werner syndrome (a progeroid syndrome with Werner syndrome phenotype but without typical RECQL2 mutation) presenting with acute ischemic cerebral disease or peripheral artery disease associated with diffuse atherosclerosis, attributable to transmission of a novel LMNA mutation.]. 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:19095983
;
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:NP729004.RAROcY6Zc_vZzXVJBcG9dxswP4Z9I-cdDBPfBQHvRO_Es130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:22+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" .
}