@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ
> .
@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:NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_head
{
this:
np:hasAssertion
dgn-np:NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_assertion
;
np:hasProvenance
dgn-np:NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_assertion
a
np:Assertion
.
dgn-np:NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_provenance
a
np:Provenance
.
dgn-np:NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_assertion
{
miriam-gene:2548
a
ncit:C16612
.
lld:C0016719
a
ncit:C7057
.
dgn-gda:DGN72519534ace0c979ed5b0551fe80c43f
sio:SIO_000628
miriam-gene:2548
,
lld:C0016719
;
a
sio:SIO_001121
.
}
dgn-np:NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_provenance
{
dgn-np:NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_assertion
dcterms:description
"[Friedreich ataxia is an autosomal recessive neurodegenerative disease caused by reduced expression levels of the frataxin gene (FXN) due to expansion of triplet nucleotide GAA repeats in the first intron of FXN.]. 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:20808827
;
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:NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:04+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" .
}