@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP834239.RA4SkShP39DyXzV718U1f49Nb6XE6YOPvIlraRGUXGeZE
> .
@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/v3.0.0/void/
> .
dgn-np:NP834239.RA4SkShP39DyXzV718U1f49Nb6XE6YOPvIlraRGUXGeZE130_head
{
this:
np:hasAssertion
dgn-np:NP834239.RA4SkShP39DyXzV718U1f49Nb6XE6YOPvIlraRGUXGeZE130_assertion
;
np:hasProvenance
dgn-np:NP834239.RA4SkShP39DyXzV718U1f49Nb6XE6YOPvIlraRGUXGeZE130_provenance
;
np:hasPublicationInfo
dgn-np:NP834239.RA4SkShP39DyXzV718U1f49Nb6XE6YOPvIlraRGUXGeZE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP834239.RA4SkShP39DyXzV718U1f49Nb6XE6YOPvIlraRGUXGeZE130_assertion
a
np:Assertion
.
dgn-np:NP834239.RA4SkShP39DyXzV718U1f49Nb6XE6YOPvIlraRGUXGeZE130_provenance
a
np:Provenance
.
dgn-np:NP834239.RA4SkShP39DyXzV718U1f49Nb6XE6YOPvIlraRGUXGeZE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP834239.RA4SkShP39DyXzV718U1f49Nb6XE6YOPvIlraRGUXGeZE130_assertion
{
miriam-gene:9997
a
ncit:C16612
.
lld:C0023264
a
ncit:C7057
.
dgn-gda:DGN6de8330d818c31e43fd528c112522d97
sio:SIO_000628
miriam-gene:9997
,
lld:C0023264
;
a
sio:SIO_001121
.
}
dgn-np:NP834239.RA4SkShP39DyXzV718U1f49Nb6XE6YOPvIlraRGUXGeZE130_provenance
{
dgn-np:NP834239.RA4SkShP39DyXzV718U1f49Nb6XE6YOPvIlraRGUXGeZE130_assertion
dcterms:description
"[However, atypical clinical features were present in some patients, including normal liver function and Leigh syndrome (subacute necrotizing encephalomyelopathy) seen in association with TRMU mutations and no cardiomyopathy with founder SCO2 mutations.]. 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:25058219
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP834239.RA4SkShP39DyXzV718U1f49Nb6XE6YOPvIlraRGUXGeZE130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:06+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}