@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP851307.RAvBrzUfcusAS3nJJDVrLgXh-qNZwxppxsr7tFcq0R-Dw
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP851307.RAvBrzUfcusAS3nJJDVrLgXh-qNZwxppxsr7tFcq0R-Dw130_head
{
this:
np:hasAssertion
dgn-np:NP851307.RAvBrzUfcusAS3nJJDVrLgXh-qNZwxppxsr7tFcq0R-Dw130_assertion
;
np:hasProvenance
dgn-np:NP851307.RAvBrzUfcusAS3nJJDVrLgXh-qNZwxppxsr7tFcq0R-Dw130_provenance
;
np:hasPublicationInfo
dgn-np:NP851307.RAvBrzUfcusAS3nJJDVrLgXh-qNZwxppxsr7tFcq0R-Dw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP851307.RAvBrzUfcusAS3nJJDVrLgXh-qNZwxppxsr7tFcq0R-Dw130_assertion
a
np:Assertion
.
dgn-np:NP851307.RAvBrzUfcusAS3nJJDVrLgXh-qNZwxppxsr7tFcq0R-Dw130_provenance
a
np:Provenance
.
dgn-np:NP851307.RAvBrzUfcusAS3nJJDVrLgXh-qNZwxppxsr7tFcq0R-Dw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP851307.RAvBrzUfcusAS3nJJDVrLgXh-qNZwxppxsr7tFcq0R-Dw130_assertion
{
miriam-gene:6261
a
ncit:C16612
.
lld:C0162292
a
ncit:C7057
.
dgn-gda:DGN2d78ae5ce1eb7ac09919323b206353ba
sio:SIO_000628
miriam-gene:6261
,
lld:C0162292
;
a
sio:SIO_001121
.
}
dgn-np:NP851307.RAvBrzUfcusAS3nJJDVrLgXh-qNZwxppxsr7tFcq0R-Dw130_provenance
{
dgn-np:NP851307.RAvBrzUfcusAS3nJJDVrLgXh-qNZwxppxsr7tFcq0R-Dw130_assertion
dcterms:description
"[A congenital myopathy featuring ptosis and external ophthalmoplegia, concomitant with the novel histopathological phenotype showing fibres with large, poorly delimited areas of myofibrillar disorganization and internal nuclei, is highly suggestive of an RYR1-related congenital myopathy.]. 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:21062345
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP851307.RAvBrzUfcusAS3nJJDVrLgXh-qNZwxppxsr7tFcq0R-Dw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:10+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}