@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP685571.RAdoQM6w4BjlR9iPWc_ktGWQ4JtA6GN0HCg6XL_FFysc8
> .
@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:NP685571.RAdoQM6w4BjlR9iPWc_ktGWQ4JtA6GN0HCg6XL_FFysc8130_head
{
this:
np:hasAssertion
dgn-np:NP685571.RAdoQM6w4BjlR9iPWc_ktGWQ4JtA6GN0HCg6XL_FFysc8130_assertion
;
np:hasProvenance
dgn-np:NP685571.RAdoQM6w4BjlR9iPWc_ktGWQ4JtA6GN0HCg6XL_FFysc8130_provenance
;
np:hasPublicationInfo
dgn-np:NP685571.RAdoQM6w4BjlR9iPWc_ktGWQ4JtA6GN0HCg6XL_FFysc8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP685571.RAdoQM6w4BjlR9iPWc_ktGWQ4JtA6GN0HCg6XL_FFysc8130_assertion
a
np:Assertion
.
dgn-np:NP685571.RAdoQM6w4BjlR9iPWc_ktGWQ4JtA6GN0HCg6XL_FFysc8130_provenance
a
np:Provenance
.
dgn-np:NP685571.RAdoQM6w4BjlR9iPWc_ktGWQ4JtA6GN0HCg6XL_FFysc8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP685571.RAdoQM6w4BjlR9iPWc_ktGWQ4JtA6GN0HCg6XL_FFysc8130_assertion
{
miriam-gene:8815
a
ncit:C16612
.
lld:C0009207
a
ncit:C7057
.
dgn-gda:DGNa08b28e7f31208a2afd8a272f5dd754d
sio:SIO_000628
miriam-gene:8815
,
lld:C0009207
;
a
sio:SIO_001121
.
}
dgn-np:NP685571.RAdoQM6w4BjlR9iPWc_ktGWQ4JtA6GN0HCg6XL_FFysc8130_provenance
{
dgn-np:NP685571.RAdoQM6w4BjlR9iPWc_ktGWQ4JtA6GN0HCg6XL_FFysc8130_assertion
dcterms:description
"[The genetically determined generalized forms are also very rare and are linked to mutations of seipin AGPAT2, FBN1, which is accompanied by Marfan syndrome, or of BANF1, which is characterized by a progeroid syndrome without insulin resistance and with early bone complications.]. 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:22748602
;
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:NP685571.RAdoQM6w4BjlR9iPWc_ktGWQ4JtA6GN0HCg6XL_FFysc8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:57+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" .
}