@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP5373.RAiexgcZc4bCUpyLCabZJ0uorJv4U8RjLvNivh_f5OcIc
> .
@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 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:NP5373.RAiexgcZc4bCUpyLCabZJ0uorJv4U8RjLvNivh_f5OcIc130_head
{
this:
np:hasAssertion
dgn-np:NP5373.RAiexgcZc4bCUpyLCabZJ0uorJv4U8RjLvNivh_f5OcIc130_assertion
;
np:hasProvenance
dgn-np:NP5373.RAiexgcZc4bCUpyLCabZJ0uorJv4U8RjLvNivh_f5OcIc130_provenance
;
np:hasPublicationInfo
dgn-np:NP5373.RAiexgcZc4bCUpyLCabZJ0uorJv4U8RjLvNivh_f5OcIc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP5373.RAiexgcZc4bCUpyLCabZJ0uorJv4U8RjLvNivh_f5OcIc130_assertion
a
np:Assertion
.
dgn-np:NP5373.RAiexgcZc4bCUpyLCabZJ0uorJv4U8RjLvNivh_f5OcIc130_provenance
a
np:Provenance
.
dgn-np:NP5373.RAiexgcZc4bCUpyLCabZJ0uorJv4U8RjLvNivh_f5OcIc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP5373.RAiexgcZc4bCUpyLCabZJ0uorJv4U8RjLvNivh_f5OcIc130_assertion
{
miriam-gene:26278
a
ncit:C16612
.
lld:C1849140
a
ncit:C7057
.
dgn-gda:DGN28fe8077fc9d89cebb54a3ad6ce4a14a
sio:SIO_000628
miriam-gene:26278
,
lld:C1849140
;
a
sio:SIO_001122
.
}
dgn-np:NP5373.RAiexgcZc4bCUpyLCabZJ0uorJv4U8RjLvNivh_f5OcIc130_provenance
{
dgn-np:NP5373.RAiexgcZc4bCUpyLCabZJ0uorJv4U8RjLvNivh_f5OcIc130_assertion
dcterms:description
"[We predict that the availability of SACS mutation analysis as well as an increasing awareness of the characteristic ARSACS phenotype will lead to the diagnosis of many additional patients, possibly even at a younger age.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:18465152
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP5373.RAiexgcZc4bCUpyLCabZJ0uorJv4U8RjLvNivh_f5OcIc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:52+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
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}