@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP960817.RAJg126f0JDXWqye2lsydsDQNSgH05rT8pY69dLQJ_sG8
> .
@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:NP960817.RAJg126f0JDXWqye2lsydsDQNSgH05rT8pY69dLQJ_sG8130_head
{
this:
np:hasAssertion
dgn-np:NP960817.RAJg126f0JDXWqye2lsydsDQNSgH05rT8pY69dLQJ_sG8130_assertion
;
np:hasProvenance
dgn-np:NP960817.RAJg126f0JDXWqye2lsydsDQNSgH05rT8pY69dLQJ_sG8130_provenance
;
np:hasPublicationInfo
dgn-np:NP960817.RAJg126f0JDXWqye2lsydsDQNSgH05rT8pY69dLQJ_sG8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP960817.RAJg126f0JDXWqye2lsydsDQNSgH05rT8pY69dLQJ_sG8130_assertion
a
np:Assertion
.
dgn-np:NP960817.RAJg126f0JDXWqye2lsydsDQNSgH05rT8pY69dLQJ_sG8130_provenance
a
np:Provenance
.
dgn-np:NP960817.RAJg126f0JDXWqye2lsydsDQNSgH05rT8pY69dLQJ_sG8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP960817.RAJg126f0JDXWqye2lsydsDQNSgH05rT8pY69dLQJ_sG8130_assertion
{
miriam-gene:91574
a
ncit:C16612
.
lld:C0029124
a
ncit:C7057
.
dgn-gda:DGNedbc74232c6ecbc582820dff7c7abc35
sio:SIO_000628
miriam-gene:91574
,
lld:C0029124
;
a
sio:SIO_001121
.
}
dgn-np:NP960817.RAJg126f0JDXWqye2lsydsDQNSgH05rT8pY69dLQJ_sG8130_provenance
{
dgn-np:NP960817.RAJg126f0JDXWqye2lsydsDQNSgH05rT8pY69dLQJ_sG8130_assertion
dcterms:description
"[We describe 2 siblings with compound heterozygous mutations in the recently identified C12orf65 gene who presented with optic atrophy and mild developmental delays and subsequently developed bilateral, symmetric lesions in the brainstem reminiscent of Leigh 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:24284555
;
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:NP960817.RAJg126f0JDXWqye2lsydsDQNSgH05rT8pY69dLQJ_sG8130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:26+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" .
}