@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1345612.RAnuHAVPaGWRGGheL3uGk_LpTAUjneWpr59cFU5T25XFg
> .
@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:NP1345612.RAnuHAVPaGWRGGheL3uGk_LpTAUjneWpr59cFU5T25XFg130_head
{
this:
np:hasAssertion
dgn-np:NP1345612.RAnuHAVPaGWRGGheL3uGk_LpTAUjneWpr59cFU5T25XFg130_assertion
;
np:hasProvenance
dgn-np:NP1345612.RAnuHAVPaGWRGGheL3uGk_LpTAUjneWpr59cFU5T25XFg130_provenance
;
np:hasPublicationInfo
dgn-np:NP1345612.RAnuHAVPaGWRGGheL3uGk_LpTAUjneWpr59cFU5T25XFg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1345612.RAnuHAVPaGWRGGheL3uGk_LpTAUjneWpr59cFU5T25XFg130_assertion
a
np:Assertion
.
dgn-np:NP1345612.RAnuHAVPaGWRGGheL3uGk_LpTAUjneWpr59cFU5T25XFg130_provenance
a
np:Provenance
.
dgn-np:NP1345612.RAnuHAVPaGWRGGheL3uGk_LpTAUjneWpr59cFU5T25XFg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1345612.RAnuHAVPaGWRGGheL3uGk_LpTAUjneWpr59cFU5T25XFg130_assertion
{
miriam-gene:6310
a
ncit:C16612
.
lld:C0024408
a
ncit:C7057
.
dgn-gda:DGNb08529297811302e5b58ef5a62b30743
sio:SIO_000628
miriam-gene:6310
,
lld:C0024408
;
a
sio:SIO_001121
.
}
dgn-np:NP1345612.RAnuHAVPaGWRGGheL3uGk_LpTAUjneWpr59cFU5T25XFg130_provenance
{
dgn-np:NP1345612.RAnuHAVPaGWRGGheL3uGk_LpTAUjneWpr59cFU5T25XFg130_assertion
dcterms:description
"[These results suggest that SCA may be occasionally caused by the SCA1 mutation and rarely caused by the DRPLA mutation and that, to date, the MJD mutation seems to be the most common cause of dominantly inherited SCA.]. 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:8559378
;
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:NP1345612.RAnuHAVPaGWRGGheL3uGk_LpTAUjneWpr59cFU5T25XFg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:56+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" .
}