@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY
> .
@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:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_head
{
this:
np:hasAssertion
dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_assertion
;
np:hasProvenance
dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_provenance
;
np:hasPublicationInfo
dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_assertion
a
np:Assertion
.
dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_provenance
a
np:Provenance
.
dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_assertion
{
miriam-gene:6683
a
ncit:C16612
.
lld:C0277554
a
ncit:C7057
.
dgn-gda:DGN41f25793c89322c5f82ec977859ec7cd
sio:SIO_000628
miriam-gene:6683
,
lld:C0277554
;
a
sio:SIO_001121
.
}
dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_provenance
{
dgn-np:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_assertion
dcterms:description
"[Our findings indicate that an abnormal interaction of mutant spastin with microtubules, which disrupts organelle transport on the microtubule cytoskeleton, is likely to be the primary disease mechanism in HSP caused by missense mutations in the spastin gene.]. 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:14681884
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP488745.RAicn94q9JFCQwClo-jnBK-JatUDb-Lkg_tlmfcEUItVY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:52+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: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" .
}