@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP586487.RA6bHCGcA5MWB6fsIJcZWx5CFK-30KJPgdLvWyJn2sEro
> .
@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:NP586487.RA6bHCGcA5MWB6fsIJcZWx5CFK-30KJPgdLvWyJn2sEro130_head
{
this:
np:hasAssertion
dgn-np:NP586487.RA6bHCGcA5MWB6fsIJcZWx5CFK-30KJPgdLvWyJn2sEro130_assertion
;
np:hasProvenance
dgn-np:NP586487.RA6bHCGcA5MWB6fsIJcZWx5CFK-30KJPgdLvWyJn2sEro130_provenance
;
np:hasPublicationInfo
dgn-np:NP586487.RA6bHCGcA5MWB6fsIJcZWx5CFK-30KJPgdLvWyJn2sEro130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP586487.RA6bHCGcA5MWB6fsIJcZWx5CFK-30KJPgdLvWyJn2sEro130_assertion
a
np:Assertion
.
dgn-np:NP586487.RA6bHCGcA5MWB6fsIJcZWx5CFK-30KJPgdLvWyJn2sEro130_provenance
a
np:Provenance
.
dgn-np:NP586487.RA6bHCGcA5MWB6fsIJcZWx5CFK-30KJPgdLvWyJn2sEro130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP586487.RA6bHCGcA5MWB6fsIJcZWx5CFK-30KJPgdLvWyJn2sEro130_assertion
{
miriam-gene:54840
a
ncit:C16612
.
lld:C0026848
a
ncit:C7057
.
dgn-gda:DGN055b43f82669c4a311bd2ceb811a58fe
sio:SIO_000628
miriam-gene:54840
,
lld:C0026848
;
a
sio:SIO_001121
.
}
dgn-np:NP586487.RA6bHCGcA5MWB6fsIJcZWx5CFK-30KJPgdLvWyJn2sEro130_provenance
{
dgn-np:NP586487.RA6bHCGcA5MWB6fsIJcZWx5CFK-30KJPgdLvWyJn2sEro130_assertion
dcterms:description
"[In contrast, secondary CoQ10 deficiencies, due to mutations in genes not directly related to ubiquinone biosynthesis (APTX, ETFDH, and BRAF), have been identified in patients with cerebellar ataxia, pure myopathy, and cardiofaciocutaneous syndrome.]. 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:19096106
;
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:NP586487.RA6bHCGcA5MWB6fsIJcZWx5CFK-30KJPgdLvWyJn2sEro130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:53+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" .
}