@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP34045.RAQk5g1SN-CxrUlU7dmjPMNcCR7U9fb_Nv5V-Jki3Mptw
> .
@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:NP34045.RAQk5g1SN-CxrUlU7dmjPMNcCR7U9fb_Nv5V-Jki3Mptw130_head
{
this:
np:hasAssertion
dgn-np:NP34045.RAQk5g1SN-CxrUlU7dmjPMNcCR7U9fb_Nv5V-Jki3Mptw130_assertion
;
np:hasProvenance
dgn-np:NP34045.RAQk5g1SN-CxrUlU7dmjPMNcCR7U9fb_Nv5V-Jki3Mptw130_provenance
;
np:hasPublicationInfo
dgn-np:NP34045.RAQk5g1SN-CxrUlU7dmjPMNcCR7U9fb_Nv5V-Jki3Mptw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP34045.RAQk5g1SN-CxrUlU7dmjPMNcCR7U9fb_Nv5V-Jki3Mptw130_assertion
a
np:Assertion
.
dgn-np:NP34045.RAQk5g1SN-CxrUlU7dmjPMNcCR7U9fb_Nv5V-Jki3Mptw130_provenance
a
np:Provenance
.
dgn-np:NP34045.RAQk5g1SN-CxrUlU7dmjPMNcCR7U9fb_Nv5V-Jki3Mptw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP34045.RAQk5g1SN-CxrUlU7dmjPMNcCR7U9fb_Nv5V-Jki3Mptw130_assertion
{
miriam-gene:10269
a
ncit:C16612
.
lld:C0024689
a
ncit:C7057
.
dgn-gda:DGN29dfe0ba7e6ebcf780d59a91eba0853a
sio:SIO_000628
miriam-gene:10269
,
lld:C0024689
;
a
sio:SIO_001121
.
}
dgn-np:NP34045.RAQk5g1SN-CxrUlU7dmjPMNcCR7U9fb_Nv5V-Jki3Mptw130_provenance
{
dgn-np:NP34045.RAQk5g1SN-CxrUlU7dmjPMNcCR7U9fb_Nv5V-Jki3Mptw130_assertion
dcterms:description
"[We now show compound heterozygous mutations, Phe361fsX379 and Trp340Arg, in the zinc metalloproteinase (ZMPSTE24) gene in one of the four patients who had severe MAD associated with progeroid appearance and generalized lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:12913070
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP34045.RAQk5g1SN-CxrUlU7dmjPMNcCR7U9fb_Nv5V-Jki3Mptw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:15+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" .
}