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http://rdf.disgenet.org/resource/nanopub/NP872996.RA78gAWk4zl1uMO0YUbwUD6T-LgA-PQ2FgGDBTTLU3K0Y
> .
@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:NP872996.RA78gAWk4zl1uMO0YUbwUD6T-LgA-PQ2FgGDBTTLU3K0Y130_head
{
this:
np:hasAssertion
dgn-np:NP872996.RA78gAWk4zl1uMO0YUbwUD6T-LgA-PQ2FgGDBTTLU3K0Y130_assertion
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np:hasProvenance
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np:hasPublicationInfo
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a
np:Nanopublication
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a
np:Assertion
.
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a
np:Provenance
.
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a
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{
miriam-gene:23437
a
ncit:C16612
.
lld:C0155552
a
ncit:C7057
.
dgn-gda:DGN6b6443260cca8ed7e7b077f6a0fa9187
sio:SIO_000628
miriam-gene:23437
,
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;
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.
}
dgn-np:NP872996.RA78gAWk4zl1uMO0YUbwUD6T-LgA-PQ2FgGDBTTLU3K0Y130_provenance
{
dgn-np:NP872996.RA78gAWk4zl1uMO0YUbwUD6T-LgA-PQ2FgGDBTTLU3K0Y130_assertion
dcterms:description
"[In the years 2005-2007 we have screened 194 probands with early onset hearing loss and 68 family members with an arrayed primer extension (APEX) microarray, which covers 201 mutations in six nuclear genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5) and two mitochondrial genes encoding 12S rRNA and tRNA-Ser (UCN).]. 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:19027966
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP872996.RA78gAWk4zl1uMO0YUbwUD6T-LgA-PQ2FgGDBTTLU3K0Y130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:31+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
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prv:usedData
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> , <
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> , <
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> , <
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<
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> ;
pav:version
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