@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY
> .
@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/v3.0.0/void/
> .
dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_head
{
this:
np:hasAssertion
dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_assertion
;
np:hasProvenance
dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_provenance
;
np:hasPublicationInfo
dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_assertion
a
np:Assertion
.
dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_provenance
a
np:Provenance
.
dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_assertion
{
miriam-gene:57704
a
ncit:C16612
.
lld:C0004134
a
ncit:C7057
.
dgn-gda:DGN91453c8f8619370cf0c2cb48951fadb6
sio:SIO_000628
miriam-gene:57704
,
lld:C0004134
;
a
sio:SIO_001121
.
}
dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_provenance
{
dgn-np:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_assertion
dcterms:description
"[By contrast, the GBA2 mutated patients show phenotypes combining typical features of both the SPG46 subtype and the recessive ataxia form, with marked intrafamilial variability thereby expanding the spectrum of clinical entities associated with GBA2 mutations.]. 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:24337409
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP932974.RASHDz6-50LIBFfT2w92rIDTYXdcGMxKj5YTdlv60L9iY130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:09+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}