@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP339347.RAcCF7Y4oSMX-yuNe1sg0P8TR7pp0rhlg2yU5KiBPjgUo
> .
@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:NP339347.RAcCF7Y4oSMX-yuNe1sg0P8TR7pp0rhlg2yU5KiBPjgUo130_head
{
this:
np:hasAssertion
dgn-np:NP339347.RAcCF7Y4oSMX-yuNe1sg0P8TR7pp0rhlg2yU5KiBPjgUo130_assertion
;
np:hasProvenance
dgn-np:NP339347.RAcCF7Y4oSMX-yuNe1sg0P8TR7pp0rhlg2yU5KiBPjgUo130_provenance
;
np:hasPublicationInfo
dgn-np:NP339347.RAcCF7Y4oSMX-yuNe1sg0P8TR7pp0rhlg2yU5KiBPjgUo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP339347.RAcCF7Y4oSMX-yuNe1sg0P8TR7pp0rhlg2yU5KiBPjgUo130_assertion
a
np:Assertion
.
dgn-np:NP339347.RAcCF7Y4oSMX-yuNe1sg0P8TR7pp0rhlg2yU5KiBPjgUo130_provenance
a
np:Provenance
.
dgn-np:NP339347.RAcCF7Y4oSMX-yuNe1sg0P8TR7pp0rhlg2yU5KiBPjgUo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP339347.RAcCF7Y4oSMX-yuNe1sg0P8TR7pp0rhlg2yU5KiBPjgUo130_assertion
{
miriam-gene:773
a
ncit:C16612
.
lld:C1832884
a
ncit:C7057
.
dgn-gda:DGN3c32d50c552843a0ff7c74c00a4a7168
sio:SIO_000628
miriam-gene:773
,
lld:C1832884
;
a
sio:SIO_001121
.
}
dgn-np:NP339347.RAcCF7Y4oSMX-yuNe1sg0P8TR7pp0rhlg2yU5KiBPjgUo130_provenance
{
dgn-np:NP339347.RAcCF7Y4oSMX-yuNe1sg0P8TR7pp0rhlg2yU5KiBPjgUo130_assertion
dcterms:description
"[Expansions of the CAG repeat in the CACNA1A gene on the short arm of the chromosome 19 induce SCA6, and point mutations in the same gene are responsible for EA2 and FHM.]. 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:11748369
;
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:NP339347.RAcCF7Y4oSMX-yuNe1sg0P8TR7pp0rhlg2yU5KiBPjgUo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:19+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" .
}