@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP379923.RAqNnEMRZwoYJlO3IZNrGRQDi026HzdOSK-gMG5j1ye1A
> .
@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:NP379923.RAqNnEMRZwoYJlO3IZNrGRQDi026HzdOSK-gMG5j1ye1A130_head
{
this:
np:hasAssertion
dgn-np:NP379923.RAqNnEMRZwoYJlO3IZNrGRQDi026HzdOSK-gMG5j1ye1A130_assertion
;
np:hasProvenance
dgn-np:NP379923.RAqNnEMRZwoYJlO3IZNrGRQDi026HzdOSK-gMG5j1ye1A130_provenance
;
np:hasPublicationInfo
dgn-np:NP379923.RAqNnEMRZwoYJlO3IZNrGRQDi026HzdOSK-gMG5j1ye1A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP379923.RAqNnEMRZwoYJlO3IZNrGRQDi026HzdOSK-gMG5j1ye1A130_assertion
a
np:Assertion
.
dgn-np:NP379923.RAqNnEMRZwoYJlO3IZNrGRQDi026HzdOSK-gMG5j1ye1A130_provenance
a
np:Provenance
.
dgn-np:NP379923.RAqNnEMRZwoYJlO3IZNrGRQDi026HzdOSK-gMG5j1ye1A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP379923.RAqNnEMRZwoYJlO3IZNrGRQDi026HzdOSK-gMG5j1ye1A130_assertion
{
miriam-gene:2706
a
ncit:C16612
.
lld:C3711374
a
ncit:C7057
.
dgn-gda:DGNd3e148fcb87a6fbf7bb84e9963e079f0
sio:SIO_000628
miriam-gene:2706
,
lld:C3711374
;
a
sio:SIO_001122
.
}
dgn-np:NP379923.RAqNnEMRZwoYJlO3IZNrGRQDi026HzdOSK-gMG5j1ye1A130_provenance
{
dgn-np:NP379923.RAqNnEMRZwoYJlO3IZNrGRQDi026HzdOSK-gMG5j1ye1A130_assertion
dcterms:description
"[Two hundred ten independently ascertained Chinese probands with nonsyndromic hearing loss (NSHL) were evaluated for mutations in GJB2, including 43 probands from families with more than one sib with NSHL, likely indicating dominant inheritance, and sporadic cases of NSHL, compatible with recessive inheritance.]. 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:12522692
;
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:NP379923.RAqNnEMRZwoYJlO3IZNrGRQDi026HzdOSK-gMG5j1ye1A130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:37+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" .
}