@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP138147.RACLma3Se9RoQe1JPuGiPdAjJg9zizEq3j4gHPsT5Rox4
> .
@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:NP138147.RACLma3Se9RoQe1JPuGiPdAjJg9zizEq3j4gHPsT5Rox4130_head
{
this:
np:hasAssertion
dgn-np:NP138147.RACLma3Se9RoQe1JPuGiPdAjJg9zizEq3j4gHPsT5Rox4130_assertion
;
np:hasProvenance
dgn-np:NP138147.RACLma3Se9RoQe1JPuGiPdAjJg9zizEq3j4gHPsT5Rox4130_provenance
;
np:hasPublicationInfo
dgn-np:NP138147.RACLma3Se9RoQe1JPuGiPdAjJg9zizEq3j4gHPsT5Rox4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP138147.RACLma3Se9RoQe1JPuGiPdAjJg9zizEq3j4gHPsT5Rox4130_assertion
a
np:Assertion
.
dgn-np:NP138147.RACLma3Se9RoQe1JPuGiPdAjJg9zizEq3j4gHPsT5Rox4130_provenance
a
np:Provenance
.
dgn-np:NP138147.RACLma3Se9RoQe1JPuGiPdAjJg9zizEq3j4gHPsT5Rox4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP138147.RACLma3Se9RoQe1JPuGiPdAjJg9zizEq3j4gHPsT5Rox4130_assertion
{
miriam-gene:2706
a
ncit:C16612
.
lld:C0581883
a
ncit:C7057
.
dgn-gda:DGNecb2d5cc8f8ffb6b8643d7e9cca6db94
sio:SIO_000628
miriam-gene:2706
,
lld:C0581883
;
a
sio:SIO_001122
.
}
dgn-np:NP138147.RACLma3Se9RoQe1JPuGiPdAjJg9zizEq3j4gHPsT5Rox4130_provenance
{
dgn-np:NP138147.RACLma3Se9RoQe1JPuGiPdAjJg9zizEq3j4gHPsT5Rox4130_assertion
dcterms:description
"[Phenotype in GJB2-associated hearing loss is correlated with genotype, with truncating mutations giving rise to more severe hearing loss. Progression of hearing loss is not uncommon, especially in association with the p.V37I allele. These results suggest ]. 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:20154630
;
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:NP138147.RACLma3Se9RoQe1JPuGiPdAjJg9zizEq3j4gHPsT5Rox4130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:38:57+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" .
}