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> .
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> .
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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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
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{
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np:hasAssertion
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a
np:Nanopublication
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np:Assertion
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np:Provenance
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{
miriam-gene:8195
a
ncit:C16612
.
lld:C0431399
a
ncit:C7057
.
dgn-gda:DGNbeb2c01595cdfb8f6a4739bf94b48589
sio:SIO_000628
miriam-gene:8195
,
lld:C0431399
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.
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dgn-np:NP792477.RAGOierH5wYMzLNqRzd99hPtZkZLO8EcNtX0WJkdHpokQ130_provenance
{
dgn-np:NP792477.RAGOierH5wYMzLNqRzd99hPtZkZLO8EcNtX0WJkdHpokQ130_assertion
dcterms:description
"[Using SNP mapping, we identified missense and truncating mutations in RPGRIP1L (KIAA1005) in both CORS and MKS, and we show that inactivation of the mouse ortholog Rpgrip1l (Ftm) recapitulates the cerebral, renal and hepatic defects of CORS and MKS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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sio:SIO_000772
miriam-pubmed:17558409
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eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
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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 .
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dgn-np:NP792477.RAGOierH5wYMzLNqRzd99hPtZkZLO8EcNtX0WJkdHpokQ130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
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dcterms:rights
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
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> , <
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> , <
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pav:version
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