@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU
> .
@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:NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_head
{
this:
np:hasAssertion
dgn-np:NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_assertion
;
np:hasProvenance
dgn-np:NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_provenance
;
np:hasPublicationInfo
dgn-np:NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_assertion
a
np:Assertion
.
dgn-np:NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_provenance
a
np:Provenance
.
dgn-np:NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_assertion
{
miriam-gene:51151
a
ncit:C16612
.
lld:C0078918
a
ncit:C7057
.
dgn-gda:DGNcfabac3fd0a20a870dd6039f178b9fe2
sio:SIO_000628
miriam-gene:51151
,
lld:C0078918
;
a
sio:SIO_001121
.
}
dgn-np:NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_provenance
{
dgn-np:NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_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
;
sio:SIO_000772
miriam-pubmed:22042571
;
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:NP531121.RAbpmJvAiyUbuae685Iz7bMZD_Tbz2mxtMH3gCegkJOKU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:21+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" .
}