@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk
> .
@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:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_head
{
this:
np:hasAssertion
dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_assertion
;
np:hasProvenance
dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_provenance
;
np:hasPublicationInfo
dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_assertion
a
np:Assertion
.
dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_provenance
a
np:Provenance
.
dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_assertion
{
miriam-gene:242
a
ncit:C16612
.
lld:C0079153
a
ncit:C7057
.
dgn-gda:DGN61d5159b0db6e5233a22a2429c53b38f
sio:SIO_000628
miriam-gene:242
,
lld:C0079153
;
a
sio:SIO_001121
.
}
dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_provenance
{
dgn-np:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_assertion
dcterms:description
"[However, by adding new variants to the repertoire of ALOX12B mutations in non-bullous congenital ichthyosiform erythroderma, our data contribute to an enlargement of the spectrum of mutations for the development of efficient molecular genetic tests for analysis of at risk individuals whose carrier status is unknown.]. 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:17139268
;
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:NP520546.RAIXWTcpkZ5RtrL9TMMQlkYK6brtnMOTxAl3NchSpxgWk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:10+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" .
}