@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP231032.RAvaMGa9UZYzyTmm9WzgKMMwwfsAK9bAGFln0CiVrBubk
> .
@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:NP231032.RAvaMGa9UZYzyTmm9WzgKMMwwfsAK9bAGFln0CiVrBubk130_head
{
this:
np:hasAssertion
dgn-np:NP231032.RAvaMGa9UZYzyTmm9WzgKMMwwfsAK9bAGFln0CiVrBubk130_assertion
;
np:hasProvenance
dgn-np:NP231032.RAvaMGa9UZYzyTmm9WzgKMMwwfsAK9bAGFln0CiVrBubk130_provenance
;
np:hasPublicationInfo
dgn-np:NP231032.RAvaMGa9UZYzyTmm9WzgKMMwwfsAK9bAGFln0CiVrBubk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP231032.RAvaMGa9UZYzyTmm9WzgKMMwwfsAK9bAGFln0CiVrBubk130_assertion
a
np:Assertion
.
dgn-np:NP231032.RAvaMGa9UZYzyTmm9WzgKMMwwfsAK9bAGFln0CiVrBubk130_provenance
a
np:Provenance
.
dgn-np:NP231032.RAvaMGa9UZYzyTmm9WzgKMMwwfsAK9bAGFln0CiVrBubk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP231032.RAvaMGa9UZYzyTmm9WzgKMMwwfsAK9bAGFln0CiVrBubk130_assertion
{
miriam-gene:617
a
ncit:C16612
.
lld:C0751651
a
ncit:C7057
.
dgn-gda:DGN13240f43b19789b77d5c2512ad2f3469
sio:SIO_000628
miriam-gene:617
,
lld:C0751651
;
a
sio:SIO_001121
.
}
dgn-np:NP231032.RAvaMGa9UZYzyTmm9WzgKMMwwfsAK9bAGFln0CiVrBubk130_provenance
{
dgn-np:NP231032.RAvaMGa9UZYzyTmm9WzgKMMwwfsAK9bAGFln0CiVrBubk130_assertion
dcterms:description
"[In addition to the Björnstad syndrome, BCS1L mutations cause complex III deficiency and the GRACILE syndrome, which in neonates are lethal conditions that have multisystem and neurologic manifestations typifying severe mitochondrial disorders.]. 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:17314340
;
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:NP231032.RAvaMGa9UZYzyTmm9WzgKMMwwfsAK9bAGFln0CiVrBubk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:09+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" .
}