@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP320493.RAZF1rggsouspV8Ab50HUKZtOtc8FZj4E-EMXgdlMe4LA
> .
@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:NP320493.RAZF1rggsouspV8Ab50HUKZtOtc8FZj4E-EMXgdlMe4LA130_head
{
this:
np:hasAssertion
dgn-np:NP320493.RAZF1rggsouspV8Ab50HUKZtOtc8FZj4E-EMXgdlMe4LA130_assertion
;
np:hasProvenance
dgn-np:NP320493.RAZF1rggsouspV8Ab50HUKZtOtc8FZj4E-EMXgdlMe4LA130_provenance
;
np:hasPublicationInfo
dgn-np:NP320493.RAZF1rggsouspV8Ab50HUKZtOtc8FZj4E-EMXgdlMe4LA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP320493.RAZF1rggsouspV8Ab50HUKZtOtc8FZj4E-EMXgdlMe4LA130_assertion
a
np:Assertion
.
dgn-np:NP320493.RAZF1rggsouspV8Ab50HUKZtOtc8FZj4E-EMXgdlMe4LA130_provenance
a
np:Provenance
.
dgn-np:NP320493.RAZF1rggsouspV8Ab50HUKZtOtc8FZj4E-EMXgdlMe4LA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP320493.RAZF1rggsouspV8Ab50HUKZtOtc8FZj4E-EMXgdlMe4LA130_assertion
{
miriam-gene:9968
a
ncit:C16612
.
lld:C0029124
a
ncit:C7057
.
dgn-gda:DGN2e3f52c4321cb5b986170f8979bed0e6
sio:SIO_000628
miriam-gene:9968
,
lld:C0029124
;
a
sio:SIO_001121
.
}
dgn-np:NP320493.RAZF1rggsouspV8Ab50HUKZtOtc8FZj4E-EMXgdlMe4LA130_provenance
{
dgn-np:NP320493.RAZF1rggsouspV8Ab50HUKZtOtc8FZj4E-EMXgdlMe4LA130_assertion
dcterms:description
"[These results suggest that screening for OPA1 gene mutations may be useful for patients with optic atrophy who have no affected relatives, or when the presentation of the disease is atypical as in the case of early onset optic atrophy.]. 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:14961560
;
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:NP320493.RAZF1rggsouspV8Ab50HUKZtOtc8FZj4E-EMXgdlMe4LA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:05+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" .
}