@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP712315.RAHqXHBbNGuYRPb2kL9XpEd1iHwvgkY_syMgxfGHQxzOY
> .
@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:NP712315.RAHqXHBbNGuYRPb2kL9XpEd1iHwvgkY_syMgxfGHQxzOY130_head
{
this:
np:hasAssertion
dgn-np:NP712315.RAHqXHBbNGuYRPb2kL9XpEd1iHwvgkY_syMgxfGHQxzOY130_assertion
;
np:hasProvenance
dgn-np:NP712315.RAHqXHBbNGuYRPb2kL9XpEd1iHwvgkY_syMgxfGHQxzOY130_provenance
;
np:hasPublicationInfo
dgn-np:NP712315.RAHqXHBbNGuYRPb2kL9XpEd1iHwvgkY_syMgxfGHQxzOY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP712315.RAHqXHBbNGuYRPb2kL9XpEd1iHwvgkY_syMgxfGHQxzOY130_assertion
a
np:Assertion
.
dgn-np:NP712315.RAHqXHBbNGuYRPb2kL9XpEd1iHwvgkY_syMgxfGHQxzOY130_provenance
a
np:Provenance
.
dgn-np:NP712315.RAHqXHBbNGuYRPb2kL9XpEd1iHwvgkY_syMgxfGHQxzOY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP712315.RAHqXHBbNGuYRPb2kL9XpEd1iHwvgkY_syMgxfGHQxzOY130_assertion
{
miriam-gene:114548
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGN13223701bb36d837234492065677539a
sio:SIO_000628
miriam-gene:114548
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP712315.RAHqXHBbNGuYRPb2kL9XpEd1iHwvgkY_syMgxfGHQxzOY130_provenance
{
dgn-np:NP712315.RAHqXHBbNGuYRPb2kL9XpEd1iHwvgkY_syMgxfGHQxzOY130_assertion
dcterms:description
"[In contrast with other authors, we cannot find out any correlation between mutations in CIAS1 and CINCA severity, but we underlined the concomitance of perinatal events and mental retardation only in CIAS1 mutated subjects.]. 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:16920754
;
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:NP712315.RAHqXHBbNGuYRPb2kL9XpEd1iHwvgkY_syMgxfGHQxzOY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:13+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" .
}