@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP110203.RALhRAnsA3ogCU4MKJaaDqUOjbRD63Dk9ACA_2WPXkZmg
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP110203.RALhRAnsA3ogCU4MKJaaDqUOjbRD63Dk9ACA_2WPXkZmg130_head
{
this:
np:hasAssertion
dgn-np:NP110203.RALhRAnsA3ogCU4MKJaaDqUOjbRD63Dk9ACA_2WPXkZmg130_assertion
;
np:hasProvenance
dgn-np:NP110203.RALhRAnsA3ogCU4MKJaaDqUOjbRD63Dk9ACA_2WPXkZmg130_provenance
;
np:hasPublicationInfo
dgn-np:NP110203.RALhRAnsA3ogCU4MKJaaDqUOjbRD63Dk9ACA_2WPXkZmg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP110203.RALhRAnsA3ogCU4MKJaaDqUOjbRD63Dk9ACA_2WPXkZmg130_assertion
a
np:Assertion
.
dgn-np:NP110203.RALhRAnsA3ogCU4MKJaaDqUOjbRD63Dk9ACA_2WPXkZmg130_provenance
a
np:Provenance
.
dgn-np:NP110203.RALhRAnsA3ogCU4MKJaaDqUOjbRD63Dk9ACA_2WPXkZmg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP110203.RALhRAnsA3ogCU4MKJaaDqUOjbRD63Dk9ACA_2WPXkZmg130_assertion
{
miriam-gene:26278
a
ncit:C16612
.
lld:C0004134
a
ncit:C7057
.
dgn-gda:DGN2e257ed5647e3dba3e41c000c791c7c3
sio:SIO_000628
miriam-gene:26278
,
lld:C0004134
;
a
sio:SIO_001122
.
}
dgn-np:NP110203.RALhRAnsA3ogCU4MKJaaDqUOjbRD63Dk9ACA_2WPXkZmg130_provenance
{
dgn-np:NP110203.RALhRAnsA3ogCU4MKJaaDqUOjbRD63Dk9ACA_2WPXkZmg130_assertion
dcterms:description
"[A homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R) was identified in two sibling Japanese early onset spastic ataxia patients ]. 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:14718708
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP110203.RALhRAnsA3ogCU4MKJaaDqUOjbRD63Dk9ACA_2WPXkZmg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:56+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}