@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP760532.RAs9IbmKpTY__5SPTtnrXTwd-Cq2R_2BdEg1JEBf6BU3o
> .
@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:NP760532.RAs9IbmKpTY__5SPTtnrXTwd-Cq2R_2BdEg1JEBf6BU3o130_head
{
this:
np:hasAssertion
dgn-np:NP760532.RAs9IbmKpTY__5SPTtnrXTwd-Cq2R_2BdEg1JEBf6BU3o130_assertion
;
np:hasProvenance
dgn-np:NP760532.RAs9IbmKpTY__5SPTtnrXTwd-Cq2R_2BdEg1JEBf6BU3o130_provenance
;
np:hasPublicationInfo
dgn-np:NP760532.RAs9IbmKpTY__5SPTtnrXTwd-Cq2R_2BdEg1JEBf6BU3o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP760532.RAs9IbmKpTY__5SPTtnrXTwd-Cq2R_2BdEg1JEBf6BU3o130_assertion
a
np:Assertion
.
dgn-np:NP760532.RAs9IbmKpTY__5SPTtnrXTwd-Cq2R_2BdEg1JEBf6BU3o130_provenance
a
np:Provenance
.
dgn-np:NP760532.RAs9IbmKpTY__5SPTtnrXTwd-Cq2R_2BdEg1JEBf6BU3o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP760532.RAs9IbmKpTY__5SPTtnrXTwd-Cq2R_2BdEg1JEBf6BU3o130_assertion
{
miriam-gene:5730
a
ncit:C16612
.
lld:C0262435
a
ncit:C7057
.
dgn-gda:DGN4fa0e850d37bba9f1b5e53f9de041102
sio:SIO_000628
miriam-gene:5730
,
lld:C0262435
;
a
sio:SIO_001121
.
}
dgn-np:NP760532.RAs9IbmKpTY__5SPTtnrXTwd-Cq2R_2BdEg1JEBf6BU3o130_provenance
{
dgn-np:NP760532.RAs9IbmKpTY__5SPTtnrXTwd-Cq2R_2BdEg1JEBf6BU3o130_assertion
dcterms:description
"[Whilst these findings demonstrate molecular heterogeneity for PDS mutations associated with Pendred syndrome, this study would support the use of molecular analysis of the PDS gene in the assessment of families with congenital hearing loss.]. 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:9618167
;
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:NP760532.RAs9IbmKpTY__5SPTtnrXTwd-Cq2R_2BdEg1JEBf6BU3o130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:40+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" .
}