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http://rdf.disgenet.org/nanopublications.trig#NP650517.RAFcogKs_ObN3EnI_cXPFW0RmOe1FALha3qLySCG7Y9zo
> .
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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/
> .
@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
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;
np:hasProvenance
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a
np:Nanopublication
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a
np:Assertion
.
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np:Provenance
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{
miriam-gene:266747
a
ncit:C16612
.
lld:C0035334
a
ncit:C7057
.
dgn-gda:DGNb61c31e17d22aecdb730421bc930936f
sio:SIO_000628
miriam-gene:266747
,
lld:C0035334
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.
}
dgn-np:NP650517.RAFcogKs_ObN3EnI_cXPFW0RmOe1FALha3qLySCG7Y9zo130_provenance
{
dgn-np:NP650517.RAFcogKs_ObN3EnI_cXPFW0RmOe1FALha3qLySCG7Y9zo130_assertion
dcterms:description
"[We used denaturing high performance liquid chromatography (D-HPLC) and direct sequencing to screen 216 patients (134 with autosomal recessive or sporadic retinitis pigmentosa (RP) and 82 with other retinal dystrophies) for RBP1 and RBP3, and 331 patients for RGR (79 cases with autosomal dominant RP and 36 RP cases with undetermined inheritance were added to the 216 previous patients).]. 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:21067480
;
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:NP650517.RAFcogKs_ObN3EnI_cXPFW0RmOe1FALha3qLySCG7Y9zo130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
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> , <
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> , <
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http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
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