@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP941733.RApolLKo7QXAtYkOCYIoF7KCaz7QuVuloNwu5lsnRXtdI
> .
@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/v4.0.0/void/
> .
dgn-np:NP941733.RApolLKo7QXAtYkOCYIoF7KCaz7QuVuloNwu5lsnRXtdI130_head
{
this:
np:hasAssertion
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;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP941733.RApolLKo7QXAtYkOCYIoF7KCaz7QuVuloNwu5lsnRXtdI130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP941733.RApolLKo7QXAtYkOCYIoF7KCaz7QuVuloNwu5lsnRXtdI130_assertion
a
np:Assertion
.
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a
np:Provenance
.
dgn-np:NP941733.RApolLKo7QXAtYkOCYIoF7KCaz7QuVuloNwu5lsnRXtdI130_publicationInfo
a
np:PublicationInfo
.
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dgn-np:NP941733.RApolLKo7QXAtYkOCYIoF7KCaz7QuVuloNwu5lsnRXtdI130_assertion
{
miriam-gene:5172
a
ncit:C16612
.
lld:C0155552
a
ncit:C7057
.
dgn-gda:DGN1525d64d55b5a8012c4fc93fbdfd3323
sio:SIO_000628
miriam-gene:5172
,
lld:C0155552
;
a
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.
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dgn-np:NP941733.RApolLKo7QXAtYkOCYIoF7KCaz7QuVuloNwu5lsnRXtdI130_provenance
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dgn-np:NP941733.RApolLKo7QXAtYkOCYIoF7KCaz7QuVuloNwu5lsnRXtdI130_assertion
dcterms:description
"[Genomic techniques such as the polymerase chain reaction, linkage analysis, Sanger sequencing, and most recently, massively parallel sequencing, have allowed researchers and clinicians to identify mutations for patients with Pendred syndrome and DFNB4 non-syndromic hearing loss.]. 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:22116368
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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 .
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dgn-np:NP941733.RApolLKo7QXAtYkOCYIoF7KCaz7QuVuloNwu5lsnRXtdI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:52+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
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prv:usedData
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pav:authoredBy
<
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> , <
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> , <
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
"v4.0.0.0" .
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"v4.0.0" .
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