@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo
> .
@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:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_head
{
this:
np:hasAssertion
dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_assertion
;
np:hasProvenance
dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_provenance
;
np:hasPublicationInfo
dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_assertion
a
np:Assertion
.
dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_provenance
a
np:Provenance
.
dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_assertion
{
miriam-gene:7436
a
ncit:C16612
.
lld:C0394006
a
ncit:C7057
.
dgn-gda:DGN6d6b0c061ddf9f044b99cd02cfd38504
sio:SIO_000628
miriam-gene:7436
,
lld:C0394006
;
a
sio:SIO_001121
.
}
dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_provenance
{
dgn-np:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_assertion
dcterms:description
"[We have delineated the phenotype associated with dysequilibrium syndrome in two Omani families and identified the first homozygous missense pathogenic mutation in VLDLR gene with likely founder effect in the southeastern part of the Arabian Peninsula.]. 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:22973972
;
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:NP425724.RAHR3PrO8xuerCk4iuyU2oLcnchiuT-85vc3RunImdHBo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:12+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" .
}