@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP546487.RAAYEqAJ4S85syWUB82MwQUsYAIGosFHaX7aaNNbijxRU
> .
@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:NP546487.RAAYEqAJ4S85syWUB82MwQUsYAIGosFHaX7aaNNbijxRU130_head
{
this:
np:hasAssertion
dgn-np:NP546487.RAAYEqAJ4S85syWUB82MwQUsYAIGosFHaX7aaNNbijxRU130_assertion
;
np:hasProvenance
dgn-np:NP546487.RAAYEqAJ4S85syWUB82MwQUsYAIGosFHaX7aaNNbijxRU130_provenance
;
np:hasPublicationInfo
dgn-np:NP546487.RAAYEqAJ4S85syWUB82MwQUsYAIGosFHaX7aaNNbijxRU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP546487.RAAYEqAJ4S85syWUB82MwQUsYAIGosFHaX7aaNNbijxRU130_assertion
a
np:Assertion
.
dgn-np:NP546487.RAAYEqAJ4S85syWUB82MwQUsYAIGosFHaX7aaNNbijxRU130_provenance
a
np:Provenance
.
dgn-np:NP546487.RAAYEqAJ4S85syWUB82MwQUsYAIGosFHaX7aaNNbijxRU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP546487.RAAYEqAJ4S85syWUB82MwQUsYAIGosFHaX7aaNNbijxRU130_assertion
{
miriam-gene:5730
a
ncit:C16612
.
lld:C0011053
a
ncit:C7057
.
dgn-gda:DGN84ad73a87dbc4155e084f97b58ca056c
sio:SIO_000628
miriam-gene:5730
,
lld:C0011053
;
a
sio:SIO_001121
.
}
dgn-np:NP546487.RAAYEqAJ4S85syWUB82MwQUsYAIGosFHaX7aaNNbijxRU130_provenance
{
dgn-np:NP546487.RAAYEqAJ4S85syWUB82MwQUsYAIGosFHaX7aaNNbijxRU130_assertion
dcterms:description
"[Since the newly created donor splice site is likely to compete with the normal one, variations of the levels of normal and aberrant transcripts of the PDS gene in the cochlea may explain the variability in the deafness presentation.]. 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:10571950
;
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:NP546487.RAAYEqAJ4S85syWUB82MwQUsYAIGosFHaX7aaNNbijxRU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:29+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" .
}