@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY
> .
@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:NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_head
{
this:
np:hasAssertion
dgn-np:NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_assertion
;
np:hasProvenance
dgn-np:NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_provenance
;
np:hasPublicationInfo
dgn-np:NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_assertion
a
np:Assertion
.
dgn-np:NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_provenance
a
np:Provenance
.
dgn-np:NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_assertion
{
miriam-gene:8395
a
ncit:C16612
.
lld:C0004134
a
ncit:C7057
.
dgn-gda:DGN2a90213a66dacb9fe37fe137adad40b1
sio:SIO_000628
miriam-gene:8395
,
lld:C0004134
;
a
sio:SIO_001121
.
}
dgn-np:NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_provenance
{
dgn-np:NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_assertion
dcterms:description
"[We have recently presented data indicating that several splice variants of STM7 incorporate elements of the X25 sequence, previously implicated in the pathogenesis of Friedreich's ataxia by the detection of an intronic GAA repeat expansion as the predominant mutation in affected individuals.]. 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:9177790
;
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:NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:41+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" .
}