@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP360154.RAGM3CHBb5RK4mz9pxHsGL4HNVimlRzumwFsV3e6elQlU
> .
@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:NP360154.RAGM3CHBb5RK4mz9pxHsGL4HNVimlRzumwFsV3e6elQlU130_head
{
this:
np:hasAssertion
dgn-np:NP360154.RAGM3CHBb5RK4mz9pxHsGL4HNVimlRzumwFsV3e6elQlU130_assertion
;
np:hasProvenance
dgn-np:NP360154.RAGM3CHBb5RK4mz9pxHsGL4HNVimlRzumwFsV3e6elQlU130_provenance
;
np:hasPublicationInfo
dgn-np:NP360154.RAGM3CHBb5RK4mz9pxHsGL4HNVimlRzumwFsV3e6elQlU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP360154.RAGM3CHBb5RK4mz9pxHsGL4HNVimlRzumwFsV3e6elQlU130_assertion
a
np:Assertion
.
dgn-np:NP360154.RAGM3CHBb5RK4mz9pxHsGL4HNVimlRzumwFsV3e6elQlU130_provenance
a
np:Provenance
.
dgn-np:NP360154.RAGM3CHBb5RK4mz9pxHsGL4HNVimlRzumwFsV3e6elQlU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP360154.RAGM3CHBb5RK4mz9pxHsGL4HNVimlRzumwFsV3e6elQlU130_assertion
{
miriam-gene:2706
a
ncit:C16612
.
lld:C0155552
a
ncit:C7057
.
dgn-gda:DGNf1cd8c817a564b94c6150f8e51797970
sio:SIO_000628
miriam-gene:2706
,
lld:C0155552
;
a
sio:SIO_001122
.
}
dgn-np:NP360154.RAGM3CHBb5RK4mz9pxHsGL4HNVimlRzumwFsV3e6elQlU130_provenance
{
dgn-np:NP360154.RAGM3CHBb5RK4mz9pxHsGL4HNVimlRzumwFsV3e6elQlU130_assertion
dcterms:description
"[This study describes mutations in the Cx26 gene in cases of familial and sporadic hearing loss (HL) by gene sequencing and identifies the allelic frequency of the most common mutation leading to HL (35delG) in the population of eastern Austria.]. 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:12107817
;
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:NP360154.RAGM3CHBb5RK4mz9pxHsGL4HNVimlRzumwFsV3e6elQlU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:28+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" .
}