@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP353061.RAiN0atjhYiuIflkJb9T-yaBXsjjbzXIEYmriCaXxfKbY
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP353061.RAiN0atjhYiuIflkJb9T-yaBXsjjbzXIEYmriCaXxfKbY130_head
{
this:
np:hasAssertion
dgn-np:NP353061.RAiN0atjhYiuIflkJb9T-yaBXsjjbzXIEYmriCaXxfKbY130_assertion
;
np:hasProvenance
dgn-np:NP353061.RAiN0atjhYiuIflkJb9T-yaBXsjjbzXIEYmriCaXxfKbY130_provenance
;
np:hasPublicationInfo
dgn-np:NP353061.RAiN0atjhYiuIflkJb9T-yaBXsjjbzXIEYmriCaXxfKbY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP353061.RAiN0atjhYiuIflkJb9T-yaBXsjjbzXIEYmriCaXxfKbY130_assertion
a
np:Assertion
.
dgn-np:NP353061.RAiN0atjhYiuIflkJb9T-yaBXsjjbzXIEYmriCaXxfKbY130_provenance
a
np:Provenance
.
dgn-np:NP353061.RAiN0atjhYiuIflkJb9T-yaBXsjjbzXIEYmriCaXxfKbY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP353061.RAiN0atjhYiuIflkJb9T-yaBXsjjbzXIEYmriCaXxfKbY130_assertion
{
miriam-gene:2706
a
ncit:C16612
.
lld:C0152268
a
ncit:C7057
.
dgn-gda:DGN85d69d09596e6bc0892e992a7d067d61
sio:SIO_000628
miriam-gene:2706
,
lld:C0152268
;
a
sio:SIO_001121
.
}
dgn-np:NP353061.RAiN0atjhYiuIflkJb9T-yaBXsjjbzXIEYmriCaXxfKbY130_provenance
{
dgn-np:NP353061.RAiN0atjhYiuIflkJb9T-yaBXsjjbzXIEYmriCaXxfKbY130_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-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP353061.RAiN0atjhYiuIflkJb9T-yaBXsjjbzXIEYmriCaXxfKbY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:27+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}