@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP902392.RA0vcHNZ0Ed2AH77E8fCE5GiBGYDLXjHeQO7TEpgwd36k
> .
@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/v3.0.0/void/
> .
dgn-np:NP902392.RA0vcHNZ0Ed2AH77E8fCE5GiBGYDLXjHeQO7TEpgwd36k130_head
{
this:
np:hasAssertion
dgn-np:NP902392.RA0vcHNZ0Ed2AH77E8fCE5GiBGYDLXjHeQO7TEpgwd36k130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP902392.RA0vcHNZ0Ed2AH77E8fCE5GiBGYDLXjHeQO7TEpgwd36k130_publicationInfo
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a
np:Nanopublication
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dgn-np:NP902392.RA0vcHNZ0Ed2AH77E8fCE5GiBGYDLXjHeQO7TEpgwd36k130_assertion
a
np:Assertion
.
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a
np:Provenance
.
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dgn-np:NP902392.RA0vcHNZ0Ed2AH77E8fCE5GiBGYDLXjHeQO7TEpgwd36k130_assertion
{
miriam-gene:51151
a
ncit:C16612
.
lld:C0078918
a
ncit:C7057
.
dgn-gda:DGN0e047713c8036b8ec508c8eb7a25be5f
sio:SIO_000628
miriam-gene:51151
,
lld:C0078918
;
a
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.
}
dgn-np:NP902392.RA0vcHNZ0Ed2AH77E8fCE5GiBGYDLXjHeQO7TEpgwd36k130_provenance
{
dgn-np:NP902392.RA0vcHNZ0Ed2AH77E8fCE5GiBGYDLXjHeQO7TEpgwd36k130_assertion
dcterms:description
"[Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with OCA, and we report the first Korean case of OCA2 with the OCA2 gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:22042571
;
prov:wasDerivedFrom
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prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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 .
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dgn-np:NP902392.RA0vcHNZ0Ed2AH77E8fCE5GiBGYDLXjHeQO7TEpgwd36k130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:51+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
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prv:usedData
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pav:authoredBy
<
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> , <
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> , <
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
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"v3.0.0" .
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