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http://rdf.disgenet.org/nanopublications.trig#NP448352.RAtlcBLdc4---UlvO5rK1zfQuAp8bIR9HLod9trRjSC-w
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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http://www.w3.org/2001/XMLSchema#
> .
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http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
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http://linkedlifedata.com/resource/umls/id/
> .
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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#
> .
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http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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{
this:
np:hasAssertion
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;
np:hasProvenance
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np:hasPublicationInfo
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a
np:Nanopublication
.
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a
np:Assertion
.
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a
np:Provenance
.
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a
np:PublicationInfo
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{
miriam-gene:23503
a
ncit:C16612
.
lld:C0034152
a
ncit:C7057
.
dgn-gda:DGN257f3bf838951dd37c17c83aeebe972b
sio:SIO_000628
miriam-gene:23503
,
lld:C0034152
;
a
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.
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dgn-np:NP448352.RAtlcBLdc4---UlvO5rK1zfQuAp8bIR9HLod9trRjSC-w130_provenance
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dgn-np:NP448352.RAtlcBLdc4---UlvO5rK1zfQuAp8bIR9HLod9trRjSC-w130_assertion
dcterms:description
"[Our study highlights the phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with HSP and significantly reduces the SPG15 locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:17661097
;
prov:wasDerivedFrom
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;
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
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dgn-np:NP448352.RAtlcBLdc4---UlvO5rK1zfQuAp8bIR9HLod9trRjSC-w130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
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pav:authoredBy
<
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> , <
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> , <
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> ;
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<
http://orcid.org/0000-0003-0169-8159
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