@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP850764.RAUKGGaGSRAFutPRqDzofiBHqfttroeYL0e8a7NAbTn00
> .
@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:NP850764.RAUKGGaGSRAFutPRqDzofiBHqfttroeYL0e8a7NAbTn00130_head
{
this:
np:hasAssertion
dgn-np:NP850764.RAUKGGaGSRAFutPRqDzofiBHqfttroeYL0e8a7NAbTn00130_assertion
;
np:hasProvenance
dgn-np:NP850764.RAUKGGaGSRAFutPRqDzofiBHqfttroeYL0e8a7NAbTn00130_provenance
;
np:hasPublicationInfo
dgn-np:NP850764.RAUKGGaGSRAFutPRqDzofiBHqfttroeYL0e8a7NAbTn00130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP850764.RAUKGGaGSRAFutPRqDzofiBHqfttroeYL0e8a7NAbTn00130_assertion
a
np:Assertion
.
dgn-np:NP850764.RAUKGGaGSRAFutPRqDzofiBHqfttroeYL0e8a7NAbTn00130_provenance
a
np:Provenance
.
dgn-np:NP850764.RAUKGGaGSRAFutPRqDzofiBHqfttroeYL0e8a7NAbTn00130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP850764.RAUKGGaGSRAFutPRqDzofiBHqfttroeYL0e8a7NAbTn00130_assertion
{
miriam-gene:4286
a
ncit:C16612
.
lld:C0265218
a
ncit:C7057
.
dgn-gda:DGNa14a7d108915eccb27cbe7cdb5e21bd6
sio:SIO_000628
miriam-gene:4286
,
lld:C0265218
;
a
sio:SIO_001121
.
}
dgn-np:NP850764.RAUKGGaGSRAFutPRqDzofiBHqfttroeYL0e8a7NAbTn00130_provenance
{
dgn-np:NP850764.RAUKGGaGSRAFutPRqDzofiBHqfttroeYL0e8a7NAbTn00130_assertion
dcterms:description
"[The R217I MITF retained partial activity, normal DNA-binding ability and nuclear distribution, whereas the T192fsX18 MITF failed to activate TYR promoter and showed aberrant subcellular localization which may be caused by deletion of nuclear localization signal (NLS) at aa 213-218 (ERRRRF).]. 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:23098757
;
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:NP850764.RAUKGGaGSRAFutPRqDzofiBHqfttroeYL0e8a7NAbTn00130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:40+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" .
}