@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M
> .
@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:NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_head
{
this:
np:hasAssertion
dgn-np:NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_assertion
;
np:hasProvenance
dgn-np:NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_provenance
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np:hasPublicationInfo
dgn-np:NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_assertion
a
np:Assertion
.
dgn-np:NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_provenance
a
np:Provenance
.
dgn-np:NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_assertion
{
miriam-gene:6223
a
ncit:C16612
.
lld:C1260899
a
ncit:C7057
.
dgn-gda:DGN559101969e879af6364e4d09832eac09
sio:SIO_000628
miriam-gene:6223
,
lld:C1260899
;
a
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.
}
dgn-np:NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_provenance
{
dgn-np:NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_assertion
dcterms:description
"[To determine the prevalence of mutations in this gene in DBA and to begin to define the molecular basis for the observed variable clinical phenotype of this disorder, the genomic sequence of the 6 exons and the 5' untranslated region of the RPS19 gene was directly assessed in DBA index cases from 172 new families.]. 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:10590074
;
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:NP5621.RAkEgpeTZoEOwq8nyXlZCbRx5sPQCtlagb4R5awo5h71M130_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" .
}