@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP778760.RA7Cq3aJusvH2yC1K7L_4GWzKetON8nVkL8ghyZKKCNqU
> .
@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:NP778760.RA7Cq3aJusvH2yC1K7L_4GWzKetON8nVkL8ghyZKKCNqU130_head
{
this:
np:hasAssertion
dgn-np:NP778760.RA7Cq3aJusvH2yC1K7L_4GWzKetON8nVkL8ghyZKKCNqU130_assertion
;
np:hasProvenance
dgn-np:NP778760.RA7Cq3aJusvH2yC1K7L_4GWzKetON8nVkL8ghyZKKCNqU130_provenance
;
np:hasPublicationInfo
dgn-np:NP778760.RA7Cq3aJusvH2yC1K7L_4GWzKetON8nVkL8ghyZKKCNqU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP778760.RA7Cq3aJusvH2yC1K7L_4GWzKetON8nVkL8ghyZKKCNqU130_assertion
a
np:Assertion
.
dgn-np:NP778760.RA7Cq3aJusvH2yC1K7L_4GWzKetON8nVkL8ghyZKKCNqU130_provenance
a
np:Provenance
.
dgn-np:NP778760.RA7Cq3aJusvH2yC1K7L_4GWzKetON8nVkL8ghyZKKCNqU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP778760.RA7Cq3aJusvH2yC1K7L_4GWzKetON8nVkL8ghyZKKCNqU130_assertion
{
miriam-gene:54840
a
ncit:C16612
.
lld:C0007758
a
ncit:C7057
.
dgn-gda:DGNe2041959c2098328ba826fdd35ec1662
sio:SIO_000628
miriam-gene:54840
,
lld:C0007758
;
a
sio:SIO_001121
.
}
dgn-np:NP778760.RA7Cq3aJusvH2yC1K7L_4GWzKetON8nVkL8ghyZKKCNqU130_provenance
{
dgn-np:NP778760.RA7Cq3aJusvH2yC1K7L_4GWzKetON8nVkL8ghyZKKCNqU130_assertion
dcterms:description
"[In the present study, we sought to determine possible causative mutations in aprataxin gene (all exons and flanking intronic sequences) in 14 Greek patients with sporadic cerebellar ataxia all but one without GAA expansion in frataxin gene (1 patient was heterozygous).]. 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:19953284
;
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:NP778760.RA7Cq3aJusvH2yC1K7L_4GWzKetON8nVkL8ghyZKKCNqU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:38+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" .
}