@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP87155.RAv-fbEAlbN3L_DcWDspjYQqtwJ4nFnJNgAKJIhOViKT4
> .
@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:NP87155.RAv-fbEAlbN3L_DcWDspjYQqtwJ4nFnJNgAKJIhOViKT4130_head
{
this:
np:hasAssertion
dgn-np:NP87155.RAv-fbEAlbN3L_DcWDspjYQqtwJ4nFnJNgAKJIhOViKT4130_assertion
;
np:hasProvenance
dgn-np:NP87155.RAv-fbEAlbN3L_DcWDspjYQqtwJ4nFnJNgAKJIhOViKT4130_provenance
;
np:hasPublicationInfo
dgn-np:NP87155.RAv-fbEAlbN3L_DcWDspjYQqtwJ4nFnJNgAKJIhOViKT4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP87155.RAv-fbEAlbN3L_DcWDspjYQqtwJ4nFnJNgAKJIhOViKT4130_assertion
a
np:Assertion
.
dgn-np:NP87155.RAv-fbEAlbN3L_DcWDspjYQqtwJ4nFnJNgAKJIhOViKT4130_provenance
a
np:Provenance
.
dgn-np:NP87155.RAv-fbEAlbN3L_DcWDspjYQqtwJ4nFnJNgAKJIhOViKT4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP87155.RAv-fbEAlbN3L_DcWDspjYQqtwJ4nFnJNgAKJIhOViKT4130_assertion
{
miriam-gene:2706
a
ncit:C16612
.
lld:C0271097
a
ncit:C7057
.
dgn-gda:DGN872c099ecd61de5bcc9c57200b2b5591
sio:SIO_000628
miriam-gene:2706
,
lld:C0271097
;
a
sio:SIO_001122
.
}
dgn-np:NP87155.RAv-fbEAlbN3L_DcWDspjYQqtwJ4nFnJNgAKJIhOViKT4130_provenance
{
dgn-np:NP87155.RAv-fbEAlbN3L_DcWDspjYQqtwJ4nFnJNgAKJIhOViKT4130_assertion
dcterms:description
"[Usher syndrome is more prevalent than has been reported before the genome project era. Early diagnosis of Usher syndrome has important positive implications for childhood safety, educational planning, genetic counseling, and treatment. The results demonstrate that DNA testing for Usher syndrome is feasible and may be a useful addition to newborn hearing screening programs.]. 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:20613545
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP87155.RAv-fbEAlbN3L_DcWDspjYQqtwJ4nFnJNgAKJIhOViKT4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:43+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" .
}