@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP81865.RAvVITCF9dQ2ZE2RRlCmqakLnFkoI7uqQw4vmQV8hCH0k
> .
@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/v3.0.0/void/
> .
dgn-np:NP81865.RAvVITCF9dQ2ZE2RRlCmqakLnFkoI7uqQw4vmQV8hCH0k130_head
{
this:
np:hasAssertion
dgn-np:NP81865.RAvVITCF9dQ2ZE2RRlCmqakLnFkoI7uqQw4vmQV8hCH0k130_assertion
;
np:hasProvenance
dgn-np:NP81865.RAvVITCF9dQ2ZE2RRlCmqakLnFkoI7uqQw4vmQV8hCH0k130_provenance
;
np:hasPublicationInfo
dgn-np:NP81865.RAvVITCF9dQ2ZE2RRlCmqakLnFkoI7uqQw4vmQV8hCH0k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP81865.RAvVITCF9dQ2ZE2RRlCmqakLnFkoI7uqQw4vmQV8hCH0k130_assertion
a
np:Assertion
.
dgn-np:NP81865.RAvVITCF9dQ2ZE2RRlCmqakLnFkoI7uqQw4vmQV8hCH0k130_provenance
a
np:Provenance
.
dgn-np:NP81865.RAvVITCF9dQ2ZE2RRlCmqakLnFkoI7uqQw4vmQV8hCH0k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP81865.RAvVITCF9dQ2ZE2RRlCmqakLnFkoI7uqQw4vmQV8hCH0k130_assertion
{
miriam-gene:9381
a
ncit:C16612
.
lld:C0018784
a
ncit:C7057
.
dgn-gda:DGN5fc00822012d6b2c0395329e6bdd4ce9
sio:SIO_000628
miriam-gene:9381
,
lld:C0018784
;
a
sio:SIO_001122
.
}
dgn-np:NP81865.RAvVITCF9dQ2ZE2RRlCmqakLnFkoI7uqQw4vmQV8hCH0k130_provenance
{
dgn-np:NP81865.RAvVITCF9dQ2ZE2RRlCmqakLnFkoI7uqQw4vmQV8hCH0k130_assertion
dcterms:description
"[The results of our study indicate that genetic diagnosis of subjects with auditory neuropathy and profound hearing impairment should be directed to the otoferlin gene. Our data are of concern to universal screening programs which use TEOAEs as the first d]. 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:14635104
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP81865.RAvVITCF9dQ2ZE2RRlCmqakLnFkoI7uqQw4vmQV8hCH0k130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:38:24+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}