@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP629353.RAky__c4IBBlDBSU9RiROncMxkWHOcuwKUkbJ3KZT1EB8
> .
@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:NP629353.RAky__c4IBBlDBSU9RiROncMxkWHOcuwKUkbJ3KZT1EB8130_head
{
this:
np:hasAssertion
dgn-np:NP629353.RAky__c4IBBlDBSU9RiROncMxkWHOcuwKUkbJ3KZT1EB8130_assertion
;
np:hasProvenance
dgn-np:NP629353.RAky__c4IBBlDBSU9RiROncMxkWHOcuwKUkbJ3KZT1EB8130_provenance
;
np:hasPublicationInfo
dgn-np:NP629353.RAky__c4IBBlDBSU9RiROncMxkWHOcuwKUkbJ3KZT1EB8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP629353.RAky__c4IBBlDBSU9RiROncMxkWHOcuwKUkbJ3KZT1EB8130_assertion
a
np:Assertion
.
dgn-np:NP629353.RAky__c4IBBlDBSU9RiROncMxkWHOcuwKUkbJ3KZT1EB8130_provenance
a
np:Provenance
.
dgn-np:NP629353.RAky__c4IBBlDBSU9RiROncMxkWHOcuwKUkbJ3KZT1EB8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP629353.RAky__c4IBBlDBSU9RiROncMxkWHOcuwKUkbJ3KZT1EB8130_assertion
{
miriam-gene:4014
a
ncit:C16612
.
lld:C0020758
a
ncit:C7057
.
dgn-gda:DGN080b733adbc68f2f60f62b15558b5b46
sio:SIO_000628
miriam-gene:4014
,
lld:C0020758
;
a
sio:SIO_001121
.
}
dgn-np:NP629353.RAky__c4IBBlDBSU9RiROncMxkWHOcuwKUkbJ3KZT1EB8130_provenance
{
dgn-np:NP629353.RAky__c4IBBlDBSU9RiROncMxkWHOcuwKUkbJ3KZT1EB8130_assertion
dcterms:description
"[Functional studies in transgenic mice have shown that the accumulation of mutant loricrin in the nucleus appears to interfere with the later stages of epidermal differentiation, thereby explaining the clinical manifestations of ichthyosis, keratoderma and pseudoainhum.]. 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:12072018
;
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:NP629353.RAky__c4IBBlDBSU9RiROncMxkWHOcuwKUkbJ3KZT1EB8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:19+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" .
}