@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP535683.RAgslJjUvZS_H2X_WXJ3-nUFeI8iOrNkVLsUbZSgeOA5M
> .
@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:NP535683.RAgslJjUvZS_H2X_WXJ3-nUFeI8iOrNkVLsUbZSgeOA5M130_head
{
this:
np:hasAssertion
dgn-np:NP535683.RAgslJjUvZS_H2X_WXJ3-nUFeI8iOrNkVLsUbZSgeOA5M130_assertion
;
np:hasProvenance
dgn-np:NP535683.RAgslJjUvZS_H2X_WXJ3-nUFeI8iOrNkVLsUbZSgeOA5M130_provenance
;
np:hasPublicationInfo
dgn-np:NP535683.RAgslJjUvZS_H2X_WXJ3-nUFeI8iOrNkVLsUbZSgeOA5M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP535683.RAgslJjUvZS_H2X_WXJ3-nUFeI8iOrNkVLsUbZSgeOA5M130_assertion
a
np:Assertion
.
dgn-np:NP535683.RAgslJjUvZS_H2X_WXJ3-nUFeI8iOrNkVLsUbZSgeOA5M130_provenance
a
np:Provenance
.
dgn-np:NP535683.RAgslJjUvZS_H2X_WXJ3-nUFeI8iOrNkVLsUbZSgeOA5M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP535683.RAgslJjUvZS_H2X_WXJ3-nUFeI8iOrNkVLsUbZSgeOA5M130_assertion
{
miriam-gene:123263
a
ncit:C16612
.
lld:C0023264
a
ncit:C7057
.
dgn-gda:DGNd5b9dba0848f567b9a0ee00f28945157
sio:SIO_000628
miriam-gene:123263
,
lld:C0023264
;
a
sio:SIO_001121
.
}
dgn-np:NP535683.RAgslJjUvZS_H2X_WXJ3-nUFeI8iOrNkVLsUbZSgeOA5M130_provenance
{
dgn-np:NP535683.RAgslJjUvZS_H2X_WXJ3-nUFeI8iOrNkVLsUbZSgeOA5M130_assertion
dcterms:description
"[Using targeted sequencing of the mtDNA and nuclear exons encoding the mitochondrial proteome (MitoExome), we identified compound heterozygous mutations in MTFMT in two unrelated children presenting with Leigh syndrome and combined OXPHOS deficiency.]. 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:21907147
;
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:NP535683.RAgslJjUvZS_H2X_WXJ3-nUFeI8iOrNkVLsUbZSgeOA5M130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:23+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" .
}