@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY
> .
@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:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_head
{
this:
np:hasAssertion
dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_assertion
;
np:hasProvenance
dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_provenance
;
np:hasPublicationInfo
dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_assertion
a
np:Assertion
.
dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_provenance
a
np:Provenance
.
dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_assertion
{
miriam-gene:7299
a
ncit:C16612
.
lld:C0078917
a
ncit:C7057
.
dgn-gda:DGNb454a057977649eb97730ba58e6a870f
sio:SIO_000628
miriam-gene:7299
,
lld:C0078917
;
a
sio:SIO_001121
.
}
dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_provenance
{
dgn-np:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_assertion
dcterms:description
"[Although sequence analysis was performed with all five candidate genes, only four (17.39%) of the 23 probands showed mutations in TYR and 2 probands (8.69%) showed an unreported novel mutation in P. Genetic counseling for phenotypical diagnosis and genetic mutation screening of these genes will help to minimize the incidence of OCA and OA in future generations.]. 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:20806075
;
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:NP515919.RABb6LZJXDXdGYXmtqZoRdILxPH3607gM7O0NDvFqHzsY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:07+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" .
}