@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP5367.RAGXTHP928qanWz04RuJdeXmZyf0F6S-cKWCK0tT77CsQ
> .
@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 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:NP5367.RAGXTHP928qanWz04RuJdeXmZyf0F6S-cKWCK0tT77CsQ130_head
{
this:
np:hasAssertion
dgn-np:NP5367.RAGXTHP928qanWz04RuJdeXmZyf0F6S-cKWCK0tT77CsQ130_assertion
;
np:hasProvenance
dgn-np:NP5367.RAGXTHP928qanWz04RuJdeXmZyf0F6S-cKWCK0tT77CsQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP5367.RAGXTHP928qanWz04RuJdeXmZyf0F6S-cKWCK0tT77CsQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP5367.RAGXTHP928qanWz04RuJdeXmZyf0F6S-cKWCK0tT77CsQ130_assertion
a
np:Assertion
.
dgn-np:NP5367.RAGXTHP928qanWz04RuJdeXmZyf0F6S-cKWCK0tT77CsQ130_provenance
a
np:Provenance
.
dgn-np:NP5367.RAGXTHP928qanWz04RuJdeXmZyf0F6S-cKWCK0tT77CsQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP5367.RAGXTHP928qanWz04RuJdeXmZyf0F6S-cKWCK0tT77CsQ130_assertion
{
miriam-gene:7399
a
ncit:C16612
.
lld:C1848634
a
ncit:C7057
.
dgn-gda:DGNbf17b89b906a2b0e501cb25918524c06
sio:SIO_000628
miriam-gene:7399
,
lld:C1848634
;
a
sio:SIO_001122
.
}
dgn-np:NP5367.RAGXTHP928qanWz04RuJdeXmZyf0F6S-cKWCK0tT77CsQ130_provenance
{
dgn-np:NP5367.RAGXTHP928qanWz04RuJdeXmZyf0F6S-cKWCK0tT77CsQ130_assertion
dct:description
"[Considering the very large size of the USH2A gene and the high number of mutations detected in USH2 patients worldwide, our findings have significant implications for genetic counseling and carrier screening in various Jewish populations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:18452394
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP5367.RAGXTHP928qanWz04RuJdeXmZyf0F6S-cKWCK0tT77CsQ130_publicationInfo
{
this:
dct:created
"2016-05-13T12:41:52+02:00"^^
xsd:dateTime
;
dct:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dct:rightsHolder
dgn-void:IBIGroup
;
dct: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" .
}