@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1022719.RAEJfde9hPFCy8aOnW-jbtg008sFE6v430j5fvOwJZ-JY
> .
@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:NP1022719.RAEJfde9hPFCy8aOnW-jbtg008sFE6v430j5fvOwJZ-JY130_head
{
this:
np:hasAssertion
dgn-np:NP1022719.RAEJfde9hPFCy8aOnW-jbtg008sFE6v430j5fvOwJZ-JY130_assertion
;
np:hasProvenance
dgn-np:NP1022719.RAEJfde9hPFCy8aOnW-jbtg008sFE6v430j5fvOwJZ-JY130_provenance
;
np:hasPublicationInfo
dgn-np:NP1022719.RAEJfde9hPFCy8aOnW-jbtg008sFE6v430j5fvOwJZ-JY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1022719.RAEJfde9hPFCy8aOnW-jbtg008sFE6v430j5fvOwJZ-JY130_assertion
a
np:Assertion
.
dgn-np:NP1022719.RAEJfde9hPFCy8aOnW-jbtg008sFE6v430j5fvOwJZ-JY130_provenance
a
np:Provenance
.
dgn-np:NP1022719.RAEJfde9hPFCy8aOnW-jbtg008sFE6v430j5fvOwJZ-JY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1022719.RAEJfde9hPFCy8aOnW-jbtg008sFE6v430j5fvOwJZ-JY130_assertion
{
miriam-gene:7299
a
ncit:C16612
.
lld:C0268494
a
ncit:C7057
.
dgn-gda:DGNe9d3e368235ac11da140b2203a346f41
sio:SIO_000628
miriam-gene:7299
,
lld:C0268494
;
a
sio:SIO_001122
.
}
dgn-np:NP1022719.RAEJfde9hPFCy8aOnW-jbtg008sFE6v430j5fvOwJZ-JY130_provenance
{
dgn-np:NP1022719.RAEJfde9hPFCy8aOnW-jbtg008sFE6v430j5fvOwJZ-JY130_assertion
dcterms:description
"[Mutations T373K, N371Y, M370T and P313R were suggested as high deleterious effect on TYR protein and it is responsible for OCA1A which were also endorsed with previous in vivo experimental studies.]. 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:23085273
;
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:NP1022719.RAEJfde9hPFCy8aOnW-jbtg008sFE6v430j5fvOwJZ-JY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:29+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" .
}