@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1050612.RAsmAPEgK_TnJzFZgy14mXmNgyY5BFc5kBM7qPJEnfn4Q
> .
@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:NP1050612.RAsmAPEgK_TnJzFZgy14mXmNgyY5BFc5kBM7qPJEnfn4Q130_head
{
this:
np:hasAssertion
dgn-np:NP1050612.RAsmAPEgK_TnJzFZgy14mXmNgyY5BFc5kBM7qPJEnfn4Q130_assertion
;
np:hasProvenance
dgn-np:NP1050612.RAsmAPEgK_TnJzFZgy14mXmNgyY5BFc5kBM7qPJEnfn4Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP1050612.RAsmAPEgK_TnJzFZgy14mXmNgyY5BFc5kBM7qPJEnfn4Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1050612.RAsmAPEgK_TnJzFZgy14mXmNgyY5BFc5kBM7qPJEnfn4Q130_assertion
a
np:Assertion
.
dgn-np:NP1050612.RAsmAPEgK_TnJzFZgy14mXmNgyY5BFc5kBM7qPJEnfn4Q130_provenance
a
np:Provenance
.
dgn-np:NP1050612.RAsmAPEgK_TnJzFZgy14mXmNgyY5BFc5kBM7qPJEnfn4Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1050612.RAsmAPEgK_TnJzFZgy14mXmNgyY5BFc5kBM7qPJEnfn4Q130_assertion
{
miriam-gene:5172
a
ncit:C16612
.
lld:C0155552
a
ncit:C7057
.
dgn-gda:DGN3d840aec58e444fb54e5fb2a52c9741d
sio:SIO_000628
miriam-gene:5172
,
lld:C0155552
;
a
sio:SIO_001121
.
}
dgn-np:NP1050612.RAsmAPEgK_TnJzFZgy14mXmNgyY5BFc5kBM7qPJEnfn4Q130_provenance
{
dgn-np:NP1050612.RAsmAPEgK_TnJzFZgy14mXmNgyY5BFc5kBM7qPJEnfn4Q130_assertion
dcterms:description
"[These results emphasize the necessity of considering the complete DNA sequencing of the SLC26A4 gene in molecular diagnosis of deafness, especially when phenotypes such as congenital, invariable, and progressive hearing loss with EVA are present.]. 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:23385134
;
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:NP1050612.RAsmAPEgK_TnJzFZgy14mXmNgyY5BFc5kBM7qPJEnfn4Q130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:42+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" .
}