@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E
> .
@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/
> .
@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/v4.0.0/void/
> .
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{
this:
np:hasAssertion
dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_assertion
a
np:Assertion
.
dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_provenance
a
np:Provenance
.
dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_publicationInfo
a
np:PublicationInfo
.
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dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_assertion
{
miriam-gene:755
a
ncit:C16612
.
lld:C0265275
a
ncit:C7057
.
dgn-gda:DGNb027e89005cdf6af8bff6bc8d0bf09ef
sio:SIO_000628
miriam-gene:755
,
lld:C0265275
;
a
sio:SIO_001121
.
}
dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_provenance
{
dgn-np:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_assertion
dcterms:description
"[Combining the screen with exome sequencing data identified recessive mutations in PIBF1, also known as CEP90, and C21orf2, also known as LRRC76, as causes of the ciliopathies Joubert and Jeune syndromes.]. 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:26167768
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1289933.RAEHMii7ObUKSusVf23aiOAPbnndrSa8OTCuZ5Or-Vl6E130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:30+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
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;
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
"v4.0.0.0" .
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"v4.0.0" .
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