@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok
> .
@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/v4.0.0/void/
> .
dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_head
{
this:
np:hasAssertion
dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_assertion
;
np:hasProvenance
dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_provenance
;
np:hasPublicationInfo
dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_assertion
a
np:Assertion
.
dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_provenance
a
np:Provenance
.
dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_assertion
{
miriam-gene:7299
a
ncit:C16612
.
lld:C0001916
a
ncit:C7057
.
dgn-gda:DGNb256a8a187e3665f2f5ca8ca5ddd847d
sio:SIO_000628
miriam-gene:7299
,
lld:C0001916
;
a
sio:SIO_001121
.
}
dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_provenance
{
dgn-np:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_assertion
dcterms:description
"[Aside from the albinism in the proband, his phenotype and that of his normally pigmented father is otherwise normal, suggesting that this TYR deletion does not involve other functionally important contiguous genes.]. 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:8618053
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1348591.RAu5N3d9l75T4RTv0es9Yz0bv8Hn3lCdz8QbdL0ZhBiok130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:57+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}