@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1241171.RAU94OH3CFrI7jl30ygfB9GVq5gMQicLbXaGK9UwcTe3U
> .
@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/v4.0.0/void/
> .
dgn-np:NP1241171.RAU94OH3CFrI7jl30ygfB9GVq5gMQicLbXaGK9UwcTe3U130_head
{
this:
np:hasAssertion
dgn-np:NP1241171.RAU94OH3CFrI7jl30ygfB9GVq5gMQicLbXaGK9UwcTe3U130_assertion
;
np:hasProvenance
dgn-np:NP1241171.RAU94OH3CFrI7jl30ygfB9GVq5gMQicLbXaGK9UwcTe3U130_provenance
;
np:hasPublicationInfo
dgn-np:NP1241171.RAU94OH3CFrI7jl30ygfB9GVq5gMQicLbXaGK9UwcTe3U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1241171.RAU94OH3CFrI7jl30ygfB9GVq5gMQicLbXaGK9UwcTe3U130_assertion
a
np:Assertion
.
dgn-np:NP1241171.RAU94OH3CFrI7jl30ygfB9GVq5gMQicLbXaGK9UwcTe3U130_provenance
a
np:Provenance
.
dgn-np:NP1241171.RAU94OH3CFrI7jl30ygfB9GVq5gMQicLbXaGK9UwcTe3U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1241171.RAU94OH3CFrI7jl30ygfB9GVq5gMQicLbXaGK9UwcTe3U130_assertion
{
miriam-gene:25821
a
ncit:C16612
.
lld:C0023264
a
ncit:C7057
.
dgn-gda:DGNde31b5460f7961f32841a304140221ba
sio:SIO_000628
miriam-gene:25821
,
lld:C0023264
;
a
sio:SIO_001121
.
}
dgn-np:NP1241171.RAU94OH3CFrI7jl30ygfB9GVq5gMQicLbXaGK9UwcTe3U130_provenance
{
dgn-np:NP1241171.RAU94OH3CFrI7jl30ygfB9GVq5gMQicLbXaGK9UwcTe3U130_assertion
dcterms:description
"[In contrast to individuals with mutations in MTO1, the protein product of which is predicted to participate in the generation of the same modification, most individuals with GTPBP3 mutations developed neurological symptoms and MRI involvement of thalamus, putamen, and brainstem resembling 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:25434004
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1241171.RAU94OH3CFrI7jl30ygfB9GVq5gMQicLbXaGK9UwcTe3U130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:08+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}