@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP593406.RAfrxDYRBrNSe2cKGXG-b3eaGYG9xid4G7G-76j2aWuOA
> .
@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 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#
> .
dgn-np:NP593406.RAfrxDYRBrNSe2cKGXG-b3eaGYG9xid4G7G-76j2aWuOA130_head
{
this:
np:hasAssertion
dgn-np:NP593406.RAfrxDYRBrNSe2cKGXG-b3eaGYG9xid4G7G-76j2aWuOA130_assertion
;
np:hasProvenance
dgn-np:NP593406.RAfrxDYRBrNSe2cKGXG-b3eaGYG9xid4G7G-76j2aWuOA130_provenance
;
np:hasPublicationInfo
dgn-np:NP593406.RAfrxDYRBrNSe2cKGXG-b3eaGYG9xid4G7G-76j2aWuOA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP593406.RAfrxDYRBrNSe2cKGXG-b3eaGYG9xid4G7G-76j2aWuOA130_assertion
a
np:Assertion
.
dgn-np:NP593406.RAfrxDYRBrNSe2cKGXG-b3eaGYG9xid4G7G-76j2aWuOA130_provenance
a
np:Provenance
.
dgn-np:NP593406.RAfrxDYRBrNSe2cKGXG-b3eaGYG9xid4G7G-76j2aWuOA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP593406.RAfrxDYRBrNSe2cKGXG-b3eaGYG9xid4G7G-76j2aWuOA130_assertion
{
miriam-gene:8458
a
ncit:C16612
.
lld:C0008925
a
ncit:C7057
.
dgn-gda:DGNb731afab6da5b71a72c49b39c2e6554e
sio:SIO_000628
miriam-gene:8458
,
lld:C0008925
;
a
sio:SIO_001121
.
}
dgn-np:NP593406.RAfrxDYRBrNSe2cKGXG-b3eaGYG9xid4G7G-76j2aWuOA130_provenance
{
dgn-np:NP593406.RAfrxDYRBrNSe2cKGXG-b3eaGYG9xid4G7G-76j2aWuOA130_assertion
dcterms:description
"[Such incomplete loss of TTF-2 function may account for the absence of choanal atresia and bifid epiglottis in our patients, anomalies which were present together with CH and cleft palate in two other individuals with the only other, more deleterious, TTF-2 mutation (A65V) described previously.]. 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:12165566
;
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:NP593406.RAfrxDYRBrNSe2cKGXG-b3eaGYG9xid4G7G-76j2aWuOA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:57+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" .
}