@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs
> .
@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:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_head
{
this:
np:hasAssertion
dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_assertion
;
np:hasProvenance
dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_provenance
;
np:hasPublicationInfo
dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_assertion
a
np:Assertion
.
dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_provenance
a
np:Provenance
.
dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_assertion
{
miriam-gene:4948
a
ncit:C16612
.
lld:C0268495
a
ncit:C7057
.
dgn-gda:DGNeed7fd3c8ad3bd94e8c30a1cc991196f
sio:SIO_000628
miriam-gene:4948
,
lld:C0268495
;
a
sio:SIO_001121
.
}
dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_provenance
{
dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_assertion
dcterms:description
"[The discovery of this novel OCA2 variant adds to the body of evidence on the detrimental effects of OCA2 gene mutations on pigmentation, supports existing GWAS data on the relevance of the OCA2 gene in melanoma predisposition, and may ultimately assist in the development of targeted molecular therapies in the treatment of OCA and melanoma.]. 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:23103111
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
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 .
}
dgn-np:NP601543.RAkKLsRLujwjd1KTf7G9vs7XmBpYS_uG7Y8B4pxYiWsFs130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:39+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}