@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP484136.RA5JwM4uQWpILWEIz484YfxFEUe0IWcqHl6h1BPyaStzQ
> .
@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:NP484136.RA5JwM4uQWpILWEIz484YfxFEUe0IWcqHl6h1BPyaStzQ130_head
{
this:
np:hasAssertion
dgn-np:NP484136.RA5JwM4uQWpILWEIz484YfxFEUe0IWcqHl6h1BPyaStzQ130_assertion
;
np:hasProvenance
dgn-np:NP484136.RA5JwM4uQWpILWEIz484YfxFEUe0IWcqHl6h1BPyaStzQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP484136.RA5JwM4uQWpILWEIz484YfxFEUe0IWcqHl6h1BPyaStzQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP484136.RA5JwM4uQWpILWEIz484YfxFEUe0IWcqHl6h1BPyaStzQ130_assertion
a
np:Assertion
.
dgn-np:NP484136.RA5JwM4uQWpILWEIz484YfxFEUe0IWcqHl6h1BPyaStzQ130_provenance
a
np:Provenance
.
dgn-np:NP484136.RA5JwM4uQWpILWEIz484YfxFEUe0IWcqHl6h1BPyaStzQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP484136.RA5JwM4uQWpILWEIz484YfxFEUe0IWcqHl6h1BPyaStzQ130_assertion
{
miriam-gene:1674
a
ncit:C16612
.
lld:C0878544
a
ncit:C7057
.
dgn-gda:DGN381c0751d00d16a7d79290cef83130e8
sio:SIO_000628
miriam-gene:1674
,
lld:C0878544
;
a
sio:SIO_001121
.
}
dgn-np:NP484136.RA5JwM4uQWpILWEIz484YfxFEUe0IWcqHl6h1BPyaStzQ130_provenance
{
dgn-np:NP484136.RA5JwM4uQWpILWEIz484YfxFEUe0IWcqHl6h1BPyaStzQ130_assertion
dcterms:description
"[This report describes the first case of desmin cardiomyopathy with early manifestation in adolescence and transformation of several clinical phenotypes over time, representing sufficient difficulties for the correct clinical diagnosis and treatment of the disease at an early stage.]. 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:22484823
;
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:NP484136.RA5JwM4uQWpILWEIz484YfxFEUe0IWcqHl6h1BPyaStzQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:49+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" .
}