@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP6324.RAjmf85vU1feLkedZy_h5fBxqDm_DU0R3WmSiytN_of4Q
> .
@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 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:NP6324.RAjmf85vU1feLkedZy_h5fBxqDm_DU0R3WmSiytN_of4Q130_head
{
this:
np:hasAssertion
dgn-np:NP6324.RAjmf85vU1feLkedZy_h5fBxqDm_DU0R3WmSiytN_of4Q130_assertion
;
np:hasProvenance
dgn-np:NP6324.RAjmf85vU1feLkedZy_h5fBxqDm_DU0R3WmSiytN_of4Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP6324.RAjmf85vU1feLkedZy_h5fBxqDm_DU0R3WmSiytN_of4Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP6324.RAjmf85vU1feLkedZy_h5fBxqDm_DU0R3WmSiytN_of4Q130_assertion
a
np:Assertion
.
dgn-np:NP6324.RAjmf85vU1feLkedZy_h5fBxqDm_DU0R3WmSiytN_of4Q130_provenance
a
np:Provenance
.
dgn-np:NP6324.RAjmf85vU1feLkedZy_h5fBxqDm_DU0R3WmSiytN_of4Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP6324.RAjmf85vU1feLkedZy_h5fBxqDm_DU0R3WmSiytN_of4Q130_assertion
{
miriam-gene:6683
a
ncit:C16612
.
lld:C1866855
a
ncit:C7057
.
dgn-gda:DGNe122de94ff77a985425e6f2f312ea656
sio:SIO_000628
miriam-gene:6683
,
lld:C1866855
;
a
sio:SIO_001122
.
}
dgn-np:NP6324.RAjmf85vU1feLkedZy_h5fBxqDm_DU0R3WmSiytN_of4Q130_provenance
{
dgn-np:NP6324.RAjmf85vU1feLkedZy_h5fBxqDm_DU0R3WmSiytN_of4Q130_assertion
dcterms:description
"[We identified five novel mutations in the spastin gene in five families with SPG4 mutations from North America and Tunisia and showed the absence of correlation between the predicted mutant spastin protein and age at onset of symptoms.]. 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:11087788
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
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-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP6324.RAjmf85vU1feLkedZy_h5fBxqDm_DU0R3WmSiytN_of4Q130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:00+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" .
}