@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48
> .
@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:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_head
{
this:
np:hasAssertion
dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_assertion
;
np:hasProvenance
dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_provenance
;
np:hasPublicationInfo
dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_assertion
a
np:Assertion
.
dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_provenance
a
np:Provenance
.
dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_assertion
{
miriam-gene:3815
a
ncit:C16612
.
lld:C0080024
a
ncit:C7057
.
dgn-gda:DGNe1ec5bb109c281b31581ffda45f853d4
sio:SIO_000628
miriam-gene:3815
,
lld:C0080024
;
a
sio:SIO_001121
.
}
dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_provenance
{
dgn-np:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_assertion
dcterms:description
"[Thus, the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome.]. 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:9450866
;
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:NP525589.RA9zIGeEF3K3yEmOcj48vLhX-1bfweo_5qNZGOLhGoa48130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:42:51+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" .
}