@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP248838.RAaTvCwVGa9OqCZgI7uUqiI7UEMPRljmJ1xyUsmbcf7c0
> .
@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:NP248838.RAaTvCwVGa9OqCZgI7uUqiI7UEMPRljmJ1xyUsmbcf7c0130_head
{
this:
np:hasAssertion
dgn-np:NP248838.RAaTvCwVGa9OqCZgI7uUqiI7UEMPRljmJ1xyUsmbcf7c0130_assertion
;
np:hasProvenance
dgn-np:NP248838.RAaTvCwVGa9OqCZgI7uUqiI7UEMPRljmJ1xyUsmbcf7c0130_provenance
;
np:hasPublicationInfo
dgn-np:NP248838.RAaTvCwVGa9OqCZgI7uUqiI7UEMPRljmJ1xyUsmbcf7c0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP248838.RAaTvCwVGa9OqCZgI7uUqiI7UEMPRljmJ1xyUsmbcf7c0130_assertion
a
np:Assertion
.
dgn-np:NP248838.RAaTvCwVGa9OqCZgI7uUqiI7UEMPRljmJ1xyUsmbcf7c0130_provenance
a
np:Provenance
.
dgn-np:NP248838.RAaTvCwVGa9OqCZgI7uUqiI7UEMPRljmJ1xyUsmbcf7c0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP248838.RAaTvCwVGa9OqCZgI7uUqiI7UEMPRljmJ1xyUsmbcf7c0130_assertion
{
miriam-gene:1756
a
ncit:C16612
.
lld:C0026846
a
ncit:C7057
.
dgn-gda:DGN8fbb980c645073c496beeef7a8964d80
sio:SIO_000628
miriam-gene:1756
,
lld:C0026846
;
a
sio:SIO_001121
.
}
dgn-np:NP248838.RAaTvCwVGa9OqCZgI7uUqiI7UEMPRljmJ1xyUsmbcf7c0130_provenance
{
dgn-np:NP248838.RAaTvCwVGa9OqCZgI7uUqiI7UEMPRljmJ1xyUsmbcf7c0130_assertion
dcterms:description
"[Out of three mutations in the dystrophin gene that cause Duchenne muscular dystrophy (DMD), the most common, serious childhood muscle wasting disease, two are genomic deletions of one or more exons that disrupt the reading frame.]. 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:18570328
;
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:NP248838.RAaTvCwVGa9OqCZgI7uUqiI7UEMPRljmJ1xyUsmbcf7c0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:19+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" .
}