@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP193277.RACWHuezWmftFsTHyHRRnSMM9lpTxqS33yiDoXgheBans
> .
@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:NP193277.RACWHuezWmftFsTHyHRRnSMM9lpTxqS33yiDoXgheBans130_head
{
this:
np:hasAssertion
dgn-np:NP193277.RACWHuezWmftFsTHyHRRnSMM9lpTxqS33yiDoXgheBans130_assertion
;
np:hasProvenance
dgn-np:NP193277.RACWHuezWmftFsTHyHRRnSMM9lpTxqS33yiDoXgheBans130_provenance
;
np:hasPublicationInfo
dgn-np:NP193277.RACWHuezWmftFsTHyHRRnSMM9lpTxqS33yiDoXgheBans130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP193277.RACWHuezWmftFsTHyHRRnSMM9lpTxqS33yiDoXgheBans130_assertion
a
np:Assertion
.
dgn-np:NP193277.RACWHuezWmftFsTHyHRRnSMM9lpTxqS33yiDoXgheBans130_provenance
a
np:Provenance
.
dgn-np:NP193277.RACWHuezWmftFsTHyHRRnSMM9lpTxqS33yiDoXgheBans130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP193277.RACWHuezWmftFsTHyHRRnSMM9lpTxqS33yiDoXgheBans130_assertion
{
miriam-gene:4000
a
ncit:C16612
.
lld:C0033300
a
ncit:C7057
.
dgn-gda:DGNf365953bcae87e6fff6fc529c78dd66e
sio:SIO_000628
miriam-gene:4000
,
lld:C0033300
;
a
sio:SIO_001121
.
}
dgn-np:NP193277.RACWHuezWmftFsTHyHRRnSMM9lpTxqS33yiDoXgheBans130_provenance
{
dgn-np:NP193277.RACWHuezWmftFsTHyHRRnSMM9lpTxqS33yiDoXgheBans130_assertion
dcterms:description
"[Lamin A/C mutations cause a series of human diseases, collectively called laminopathies, the most severe of which is Hutchinson Gilford progeria syndrome (HGPS) and restrictive dermopathy (RD) which arises due to an unsuccessful maturation of prelamin A.]. 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:18366013
;
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:NP193277.RACWHuezWmftFsTHyHRRnSMM9lpTxqS33yiDoXgheBans130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:46+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" .
}