@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP819429.RA0fPnoDVxxrZMcSDUp-YymaLpKXAY-tq0s9_VCmh13yc
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP819429.RA0fPnoDVxxrZMcSDUp-YymaLpKXAY-tq0s9_VCmh13yc130_assertion
;
np:hasProvenance
dgn-np:NP819429.RA0fPnoDVxxrZMcSDUp-YymaLpKXAY-tq0s9_VCmh13yc130_provenance
;
np:hasPublicationInfo
dgn-np:NP819429.RA0fPnoDVxxrZMcSDUp-YymaLpKXAY-tq0s9_VCmh13yc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP819429.RA0fPnoDVxxrZMcSDUp-YymaLpKXAY-tq0s9_VCmh13yc130_assertion
a
np:Assertion
.
dgn-np:NP819429.RA0fPnoDVxxrZMcSDUp-YymaLpKXAY-tq0s9_VCmh13yc130_provenance
a
np:Provenance
.
dgn-np:NP819429.RA0fPnoDVxxrZMcSDUp-YymaLpKXAY-tq0s9_VCmh13yc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP819429.RA0fPnoDVxxrZMcSDUp-YymaLpKXAY-tq0s9_VCmh13yc130_assertion
{
miriam-gene:23545
a
ncit:C16612
.
lld:C0268351
a
ncit:C7057
.
dgn-gda:DGN59c6cf5bd46094f92ed6f1c3d57d5e58
sio:SIO_000628
miriam-gene:23545
,
lld:C0268351
;
a
sio:SIO_001121
.
}
dgn-np:NP819429.RA0fPnoDVxxrZMcSDUp-YymaLpKXAY-tq0s9_VCmh13yc130_provenance
{
dgn-np:NP819429.RA0fPnoDVxxrZMcSDUp-YymaLpKXAY-tq0s9_VCmh13yc130_assertion
dcterms:description
"[Our current findings expand the genetic and phenotypic spectrum and suggest that, besides the known glycosylation defect, alterations in trafficking and signalling processes are potential key events in the pathogenesis of ATP6V0A2-related ARCL.]. 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:22773132
;
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:NP819429.RA0fPnoDVxxrZMcSDUp-YymaLpKXAY-tq0s9_VCmh13yc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:22+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" .
}