@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP622458.RA22wTXC6_CxpX9Cv0GelO-7YAmrV831W9OC8s3Ux1IYQ
> .
@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:NP622458.RA22wTXC6_CxpX9Cv0GelO-7YAmrV831W9OC8s3Ux1IYQ130_head
{
this:
np:hasAssertion
dgn-np:NP622458.RA22wTXC6_CxpX9Cv0GelO-7YAmrV831W9OC8s3Ux1IYQ130_assertion
;
np:hasProvenance
dgn-np:NP622458.RA22wTXC6_CxpX9Cv0GelO-7YAmrV831W9OC8s3Ux1IYQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP622458.RA22wTXC6_CxpX9Cv0GelO-7YAmrV831W9OC8s3Ux1IYQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP622458.RA22wTXC6_CxpX9Cv0GelO-7YAmrV831W9OC8s3Ux1IYQ130_assertion
a
np:Assertion
.
dgn-np:NP622458.RA22wTXC6_CxpX9Cv0GelO-7YAmrV831W9OC8s3Ux1IYQ130_provenance
a
np:Provenance
.
dgn-np:NP622458.RA22wTXC6_CxpX9Cv0GelO-7YAmrV831W9OC8s3Ux1IYQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP622458.RA22wTXC6_CxpX9Cv0GelO-7YAmrV831W9OC8s3Ux1IYQ130_assertion
{
miriam-gene:57216
a
ncit:C16612
.
lld:C0741916
a
ncit:C7057
.
dgn-gda:DGNd4b7daabe662d41e8d4c2c81c2cae130
sio:SIO_000628
miriam-gene:57216
,
lld:C0741916
;
a
sio:SIO_001121
.
}
dgn-np:NP622458.RA22wTXC6_CxpX9Cv0GelO-7YAmrV831W9OC8s3Ux1IYQ130_provenance
{
dgn-np:NP622458.RA22wTXC6_CxpX9Cv0GelO-7YAmrV831W9OC8s3Ux1IYQ130_assertion
dcterms:description
"[We demonstrated differences between the frequencies of clinical signs among the cases reported and seven Brazilian cases of this study, such as dental anomalies, strabismus, ear infections, deep hoarse voice, hearing loss, and cardiac defects.]. 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:22057962
;
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:NP622458.RA22wTXC6_CxpX9Cv0GelO-7YAmrV831W9OC8s3Ux1IYQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:16+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" .
}