@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP453733.RA1FvUL7wjh9DX9-HLipV7q0l_uj0eYb-3xOy3hExOIsY
> .
@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:NP453733.RA1FvUL7wjh9DX9-HLipV7q0l_uj0eYb-3xOy3hExOIsY130_head
{
this:
np:hasAssertion
dgn-np:NP453733.RA1FvUL7wjh9DX9-HLipV7q0l_uj0eYb-3xOy3hExOIsY130_assertion
;
np:hasProvenance
dgn-np:NP453733.RA1FvUL7wjh9DX9-HLipV7q0l_uj0eYb-3xOy3hExOIsY130_provenance
;
np:hasPublicationInfo
dgn-np:NP453733.RA1FvUL7wjh9DX9-HLipV7q0l_uj0eYb-3xOy3hExOIsY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP453733.RA1FvUL7wjh9DX9-HLipV7q0l_uj0eYb-3xOy3hExOIsY130_assertion
a
np:Assertion
.
dgn-np:NP453733.RA1FvUL7wjh9DX9-HLipV7q0l_uj0eYb-3xOy3hExOIsY130_provenance
a
np:Provenance
.
dgn-np:NP453733.RA1FvUL7wjh9DX9-HLipV7q0l_uj0eYb-3xOy3hExOIsY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP453733.RA1FvUL7wjh9DX9-HLipV7q0l_uj0eYb-3xOy3hExOIsY130_assertion
{
miriam-gene:58
a
ncit:C16612
.
lld:C0151786
a
ncit:C7057
.
dgn-gda:DGNa2ee1a3ff47f8c3f2682ef3c0a87a11d
sio:SIO_000628
miriam-gene:58
,
lld:C0151786
;
a
sio:SIO_001121
.
}
dgn-np:NP453733.RA1FvUL7wjh9DX9-HLipV7q0l_uj0eYb-3xOy3hExOIsY130_provenance
{
dgn-np:NP453733.RA1FvUL7wjh9DX9-HLipV7q0l_uj0eYb-3xOy3hExOIsY130_assertion
dcterms:description
"[In addition to a new ACTA1 gene mutation, our case emphasizes the genetic heterogeneity of cap myopathy and its association with ACTA1 gene as well as the importance of repeat muscle biopsy in patients with undiagnosed muscle weakness.]. 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:20303757
;
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:NP453733.RA1FvUL7wjh9DX9-HLipV7q0l_uj0eYb-3xOy3hExOIsY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:30+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" .
}