@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP654247.RA2n6g4McTMZpgesjBWGt6y4gylF-0r9QEY_6tTgY1SnQ
> .
@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:NP654247.RA2n6g4McTMZpgesjBWGt6y4gylF-0r9QEY_6tTgY1SnQ130_head
{
this:
np:hasAssertion
dgn-np:NP654247.RA2n6g4McTMZpgesjBWGt6y4gylF-0r9QEY_6tTgY1SnQ130_assertion
;
np:hasProvenance
dgn-np:NP654247.RA2n6g4McTMZpgesjBWGt6y4gylF-0r9QEY_6tTgY1SnQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP654247.RA2n6g4McTMZpgesjBWGt6y4gylF-0r9QEY_6tTgY1SnQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP654247.RA2n6g4McTMZpgesjBWGt6y4gylF-0r9QEY_6tTgY1SnQ130_assertion
a
np:Assertion
.
dgn-np:NP654247.RA2n6g4McTMZpgesjBWGt6y4gylF-0r9QEY_6tTgY1SnQ130_provenance
a
np:Provenance
.
dgn-np:NP654247.RA2n6g4McTMZpgesjBWGt6y4gylF-0r9QEY_6tTgY1SnQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP654247.RA2n6g4McTMZpgesjBWGt6y4gylF-0r9QEY_6tTgY1SnQ130_assertion
{
miriam-gene:7414
a
ncit:C16612
.
lld:C0007193
a
ncit:C7057
.
dgn-gda:DGNe68b66c1a5f28d22e6e7278fa4deb363
sio:SIO_000628
miriam-gene:7414
,
lld:C0007193
;
a
sio:SIO_001121
.
}
dgn-np:NP654247.RA2n6g4McTMZpgesjBWGt6y4gylF-0r9QEY_6tTgY1SnQ130_provenance
{
dgn-np:NP654247.RA2n6g4McTMZpgesjBWGt6y4gylF-0r9QEY_6tTgY1SnQ130_assertion
dcterms:description
"[The R975W mutation, in the alternatively spliced exon 19 of vinculin (VCL) which yields the isoform metavinculin, was associated previously with hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), and shown to alter in vivo organization of intercalated discs.]. 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:16712796
;
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:NP654247.RA2n6g4McTMZpgesjBWGt6y4gylF-0r9QEY_6tTgY1SnQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:34+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" .
}