@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1011710.RAqZZwyZASGXGOyrbz99DS1zy9D4JTSXRTdpIIqqjjnoo
> .
@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:NP1011710.RAqZZwyZASGXGOyrbz99DS1zy9D4JTSXRTdpIIqqjjnoo130_head
{
this:
np:hasAssertion
dgn-np:NP1011710.RAqZZwyZASGXGOyrbz99DS1zy9D4JTSXRTdpIIqqjjnoo130_assertion
;
np:hasProvenance
dgn-np:NP1011710.RAqZZwyZASGXGOyrbz99DS1zy9D4JTSXRTdpIIqqjjnoo130_provenance
;
np:hasPublicationInfo
dgn-np:NP1011710.RAqZZwyZASGXGOyrbz99DS1zy9D4JTSXRTdpIIqqjjnoo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1011710.RAqZZwyZASGXGOyrbz99DS1zy9D4JTSXRTdpIIqqjjnoo130_assertion
a
np:Assertion
.
dgn-np:NP1011710.RAqZZwyZASGXGOyrbz99DS1zy9D4JTSXRTdpIIqqjjnoo130_provenance
a
np:Provenance
.
dgn-np:NP1011710.RAqZZwyZASGXGOyrbz99DS1zy9D4JTSXRTdpIIqqjjnoo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1011710.RAqZZwyZASGXGOyrbz99DS1zy9D4JTSXRTdpIIqqjjnoo130_assertion
{
miriam-gene:9968
a
ncit:C16612
.
lld:C0338508
a
ncit:C7057
.
dgn-gda:DGNe46469a11564426b67f424efe3b3feb7
sio:SIO_000628
miriam-gene:9968
,
lld:C0338508
;
a
sio:SIO_001121
.
}
dgn-np:NP1011710.RAqZZwyZASGXGOyrbz99DS1zy9D4JTSXRTdpIIqqjjnoo130_provenance
{
dgn-np:NP1011710.RAqZZwyZASGXGOyrbz99DS1zy9D4JTSXRTdpIIqqjjnoo130_assertion
dcterms:description
"[In addition, a missense mutation in exon 10 resulted in predominant optical nerve atrophy, which might suggest deleterious interactions of this SPG7 variant with its substrate OPA1, the mutated gene product in optic atrophy type 1.]. 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:22964162
;
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:NP1011710.RAqZZwyZASGXGOyrbz99DS1zy9D4JTSXRTdpIIqqjjnoo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:24+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" .
}