@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP446508.RAuWT9gSc29Yz9-WoodRnhGxgwyhCgGXYmMXBDSlgQhjE
> .
@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:NP446508.RAuWT9gSc29Yz9-WoodRnhGxgwyhCgGXYmMXBDSlgQhjE130_head
{
this:
np:hasAssertion
dgn-np:NP446508.RAuWT9gSc29Yz9-WoodRnhGxgwyhCgGXYmMXBDSlgQhjE130_assertion
;
np:hasProvenance
dgn-np:NP446508.RAuWT9gSc29Yz9-WoodRnhGxgwyhCgGXYmMXBDSlgQhjE130_provenance
;
np:hasPublicationInfo
dgn-np:NP446508.RAuWT9gSc29Yz9-WoodRnhGxgwyhCgGXYmMXBDSlgQhjE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP446508.RAuWT9gSc29Yz9-WoodRnhGxgwyhCgGXYmMXBDSlgQhjE130_assertion
a
np:Assertion
.
dgn-np:NP446508.RAuWT9gSc29Yz9-WoodRnhGxgwyhCgGXYmMXBDSlgQhjE130_provenance
a
np:Provenance
.
dgn-np:NP446508.RAuWT9gSc29Yz9-WoodRnhGxgwyhCgGXYmMXBDSlgQhjE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP446508.RAuWT9gSc29Yz9-WoodRnhGxgwyhCgGXYmMXBDSlgQhjE130_assertion
{
miriam-gene:54840
a
ncit:C16612
.
lld:C0004134
a
ncit:C7057
.
dgn-gda:DGN3be53a9620d77a95edf5d2c4aa41a370
sio:SIO_000628
miriam-gene:54840
,
lld:C0004134
;
a
sio:SIO_001121
.
}
dgn-np:NP446508.RAuWT9gSc29Yz9-WoodRnhGxgwyhCgGXYmMXBDSlgQhjE130_provenance
{
dgn-np:NP446508.RAuWT9gSc29Yz9-WoodRnhGxgwyhCgGXYmMXBDSlgQhjE130_assertion
dcterms:description
"[It is concluded that autosomal recessive inheritance seems the most likely explanation here, as recent studies have found insertion and missense mutations of the aprataxin gene which have been related to an early onset form of ataxia with ocular motor apraxia and hypoalbuminaemia.]. 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:15174536
;
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:NP446508.RAuWT9gSc29Yz9-WoodRnhGxgwyhCgGXYmMXBDSlgQhjE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:07+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" .
}