@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP382404.RASNTfOsIw0__kv9MSWELGBihyaGkXPmCgfT3pbPhuMb4
> .
@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:NP382404.RASNTfOsIw0__kv9MSWELGBihyaGkXPmCgfT3pbPhuMb4130_head
{
this:
np:hasAssertion
dgn-np:NP382404.RASNTfOsIw0__kv9MSWELGBihyaGkXPmCgfT3pbPhuMb4130_assertion
;
np:hasProvenance
dgn-np:NP382404.RASNTfOsIw0__kv9MSWELGBihyaGkXPmCgfT3pbPhuMb4130_provenance
;
np:hasPublicationInfo
dgn-np:NP382404.RASNTfOsIw0__kv9MSWELGBihyaGkXPmCgfT3pbPhuMb4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP382404.RASNTfOsIw0__kv9MSWELGBihyaGkXPmCgfT3pbPhuMb4130_assertion
a
np:Assertion
.
dgn-np:NP382404.RASNTfOsIw0__kv9MSWELGBihyaGkXPmCgfT3pbPhuMb4130_provenance
a
np:Provenance
.
dgn-np:NP382404.RASNTfOsIw0__kv9MSWELGBihyaGkXPmCgfT3pbPhuMb4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP382404.RASNTfOsIw0__kv9MSWELGBihyaGkXPmCgfT3pbPhuMb4130_assertion
{
miriam-gene:2706
a
ncit:C16612
.
lld:C0155552
a
ncit:C7057
.
dgn-gda:DGN45df616534d6a92d0dad7bf316adc53b
sio:SIO_000628
miriam-gene:2706
,
lld:C0155552
;
a
sio:SIO_001122
.
}
dgn-np:NP382404.RASNTfOsIw0__kv9MSWELGBihyaGkXPmCgfT3pbPhuMb4130_provenance
{
dgn-np:NP382404.RASNTfOsIw0__kv9MSWELGBihyaGkXPmCgfT3pbPhuMb4130_assertion
dcterms:description
"[The present study suggests that (R127H) mutation associated with hereditary sensorineural deafness results in the formation of defective Cx26 gap junctions, which may lead to the malfunction of cochlear gap junctions and 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:12562518
;
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 .
}
dgn-np:NP382404.RASNTfOsIw0__kv9MSWELGBihyaGkXPmCgfT3pbPhuMb4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:38+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}