@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP484215.RAYZL-zwQMeXYmzM-i4q4tRSP_Z2vTkwkmbBdzYc-8UzM
> .
@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:NP484215.RAYZL-zwQMeXYmzM-i4q4tRSP_Z2vTkwkmbBdzYc-8UzM130_head
{
this:
np:hasAssertion
dgn-np:NP484215.RAYZL-zwQMeXYmzM-i4q4tRSP_Z2vTkwkmbBdzYc-8UzM130_assertion
;
np:hasProvenance
dgn-np:NP484215.RAYZL-zwQMeXYmzM-i4q4tRSP_Z2vTkwkmbBdzYc-8UzM130_provenance
;
np:hasPublicationInfo
dgn-np:NP484215.RAYZL-zwQMeXYmzM-i4q4tRSP_Z2vTkwkmbBdzYc-8UzM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP484215.RAYZL-zwQMeXYmzM-i4q4tRSP_Z2vTkwkmbBdzYc-8UzM130_assertion
a
np:Assertion
.
dgn-np:NP484215.RAYZL-zwQMeXYmzM-i4q4tRSP_Z2vTkwkmbBdzYc-8UzM130_provenance
a
np:Provenance
.
dgn-np:NP484215.RAYZL-zwQMeXYmzM-i4q4tRSP_Z2vTkwkmbBdzYc-8UzM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP484215.RAYZL-zwQMeXYmzM-i4q4tRSP_Z2vTkwkmbBdzYc-8UzM130_assertion
{
miriam-gene:10804
a
ncit:C16612
.
lld:C0018784
a
ncit:C7057
.
dgn-gda:DGN09313ad8752a28081648fdbbeb4e8453
sio:SIO_000628
miriam-gene:10804
,
lld:C0018784
;
a
sio:SIO_001121
.
}
dgn-np:NP484215.RAYZL-zwQMeXYmzM-i4q4tRSP_Z2vTkwkmbBdzYc-8UzM130_provenance
{
dgn-np:NP484215.RAYZL-zwQMeXYmzM-i4q4tRSP_Z2vTkwkmbBdzYc-8UzM130_assertion
dcterms:description
"[A total of 119 unrelated children (107 sporadic and 12 familial cases) with prelingual nonsyndromic HL underwent mutational screening for DFNB1 in the noncoding and coding exons of GJB2, in addition to the del(GJB6-D13S1830) mutation of GJB6.]. 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:18758381
;
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:NP484215.RAYZL-zwQMeXYmzM-i4q4tRSP_Z2vTkwkmbBdzYc-8UzM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:49+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" .
}