@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP919552.RA_9O0KImtHIdpK8CTLj8QlEBPV-n4hGGNlVtfBcHVnIw
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP919552.RA_9O0KImtHIdpK8CTLj8QlEBPV-n4hGGNlVtfBcHVnIw130_head
{
this:
np:hasAssertion
dgn-np:NP919552.RA_9O0KImtHIdpK8CTLj8QlEBPV-n4hGGNlVtfBcHVnIw130_assertion
;
np:hasProvenance
dgn-np:NP919552.RA_9O0KImtHIdpK8CTLj8QlEBPV-n4hGGNlVtfBcHVnIw130_provenance
;
np:hasPublicationInfo
dgn-np:NP919552.RA_9O0KImtHIdpK8CTLj8QlEBPV-n4hGGNlVtfBcHVnIw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP919552.RA_9O0KImtHIdpK8CTLj8QlEBPV-n4hGGNlVtfBcHVnIw130_assertion
a
np:Assertion
.
dgn-np:NP919552.RA_9O0KImtHIdpK8CTLj8QlEBPV-n4hGGNlVtfBcHVnIw130_provenance
a
np:Provenance
.
dgn-np:NP919552.RA_9O0KImtHIdpK8CTLj8QlEBPV-n4hGGNlVtfBcHVnIw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP919552.RA_9O0KImtHIdpK8CTLj8QlEBPV-n4hGGNlVtfBcHVnIw130_assertion
{
miriam-gene:4000
a
ncit:C16612
.
lld:C0231341
a
ncit:C7057
.
dgn-gda:DGN358c29e590edac8f42e1efbe825e022a
sio:SIO_000628
miriam-gene:4000
,
lld:C0231341
;
a
sio:SIO_001121
.
}
dgn-np:NP919552.RA_9O0KImtHIdpK8CTLj8QlEBPV-n4hGGNlVtfBcHVnIw130_provenance
{
dgn-np:NP919552.RA_9O0KImtHIdpK8CTLj8QlEBPV-n4hGGNlVtfBcHVnIw130_assertion
dcterms:description
"[Remarkably, over 400 distinct point mutations have been so far identified throughout the LMNA gene, which result in the development of at least ten distinct human disorders, collectively known as laminopathies, among which is the premature aging disease Hutchinson-Gilford progeria syndrome (HGPS).]. 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:21871450
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP919552.RA_9O0KImtHIdpK8CTLj8QlEBPV-n4hGGNlVtfBcHVnIw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:41+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}