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http://rdf.disgenet.org/nanopublications.trig#NP191685.RAG3etUobVhObH5sMYOJt4YqA2T3M1AcphFMsZ9X5ipEs
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
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#
> .
@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#
> .
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http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP191685.RAG3etUobVhObH5sMYOJt4YqA2T3M1AcphFMsZ9X5ipEs130_head
{
this:
np:hasAssertion
dgn-np:NP191685.RAG3etUobVhObH5sMYOJt4YqA2T3M1AcphFMsZ9X5ipEs130_assertion
;
np:hasProvenance
dgn-np:NP191685.RAG3etUobVhObH5sMYOJt4YqA2T3M1AcphFMsZ9X5ipEs130_provenance
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np:hasPublicationInfo
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a
np:Nanopublication
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a
np:Assertion
.
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a
np:Provenance
.
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a
np:PublicationInfo
.
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dgn-np:NP191685.RAG3etUobVhObH5sMYOJt4YqA2T3M1AcphFMsZ9X5ipEs130_assertion
{
miriam-gene:26123
a
ncit:C16612
.
lld:C0431399
a
ncit:C7057
.
dgn-gda:DGN9a980b5a98a9a38e4d1f2e56f976d713
sio:SIO_000628
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,
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.
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dgn-np:NP191685.RAG3etUobVhObH5sMYOJt4YqA2T3M1AcphFMsZ9X5ipEs130_provenance
{
dgn-np:NP191685.RAG3etUobVhObH5sMYOJt4YqA2T3M1AcphFMsZ9X5ipEs130_assertion
dcterms:description
"[Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in unrelated fetal cases with overlapping Meckel and OFD IV syndromes and one homozygous missense mutation in a family with Joubert syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:22883145
;
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:NP191685.RAG3etUobVhObH5sMYOJt4YqA2T3M1AcphFMsZ9X5ipEs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:45+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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http://orcid.org/0000-0002-9383-528X
> , <
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> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
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> ;
pav:version
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