@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1209966.RAcr7r2QdP0sCEFg7cQ5SknX5I3EbcCxJ_xdJcU7EeHoo
> .
@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:NP1209966.RAcr7r2QdP0sCEFg7cQ5SknX5I3EbcCxJ_xdJcU7EeHoo130_head
{
this:
np:hasAssertion
dgn-np:NP1209966.RAcr7r2QdP0sCEFg7cQ5SknX5I3EbcCxJ_xdJcU7EeHoo130_assertion
;
np:hasProvenance
dgn-np:NP1209966.RAcr7r2QdP0sCEFg7cQ5SknX5I3EbcCxJ_xdJcU7EeHoo130_provenance
;
np:hasPublicationInfo
dgn-np:NP1209966.RAcr7r2QdP0sCEFg7cQ5SknX5I3EbcCxJ_xdJcU7EeHoo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1209966.RAcr7r2QdP0sCEFg7cQ5SknX5I3EbcCxJ_xdJcU7EeHoo130_assertion
a
np:Assertion
.
dgn-np:NP1209966.RAcr7r2QdP0sCEFg7cQ5SknX5I3EbcCxJ_xdJcU7EeHoo130_provenance
a
np:Provenance
.
dgn-np:NP1209966.RAcr7r2QdP0sCEFg7cQ5SknX5I3EbcCxJ_xdJcU7EeHoo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1209966.RAcr7r2QdP0sCEFg7cQ5SknX5I3EbcCxJ_xdJcU7EeHoo130_assertion
{
miriam-gene:10934
a
ncit:C16612
.
lld:C1853761
a
ncit:C7057
.
dgn-gda:DGN6910a12a9c888766f43b7a3f6ef82ca2
sio:SIO_000628
miriam-gene:10934
,
lld:C1853761
;
a
sio:SIO_001121
.
}
dgn-np:NP1209966.RAcr7r2QdP0sCEFg7cQ5SknX5I3EbcCxJ_xdJcU7EeHoo130_provenance
{
dgn-np:NP1209966.RAcr7r2QdP0sCEFg7cQ5SknX5I3EbcCxJ_xdJcU7EeHoo130_assertion
dcterms:description
"[Guided by sequence homology between the conserved helicase domains of Sen1 and Senataxin, we tested the effects of 13 missense mutations that cosegregate with the inherited disorder ataxia with oculomotor apraxia type 2 on Sen1 function.]. 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:25116135
;
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:NP1209966.RAcr7r2QdP0sCEFg7cQ5SknX5I3EbcCxJ_xdJcU7EeHoo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:54+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" .
}