@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP786082.RADgfQefCWR-4yhrZJ90ivtVW1Oyk66HuzctYAnjzE41s
> .
@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:NP786082.RADgfQefCWR-4yhrZJ90ivtVW1Oyk66HuzctYAnjzE41s130_head
{
this:
np:hasAssertion
dgn-np:NP786082.RADgfQefCWR-4yhrZJ90ivtVW1Oyk66HuzctYAnjzE41s130_assertion
;
np:hasProvenance
dgn-np:NP786082.RADgfQefCWR-4yhrZJ90ivtVW1Oyk66HuzctYAnjzE41s130_provenance
;
np:hasPublicationInfo
dgn-np:NP786082.RADgfQefCWR-4yhrZJ90ivtVW1Oyk66HuzctYAnjzE41s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP786082.RADgfQefCWR-4yhrZJ90ivtVW1Oyk66HuzctYAnjzE41s130_assertion
a
np:Assertion
.
dgn-np:NP786082.RADgfQefCWR-4yhrZJ90ivtVW1Oyk66HuzctYAnjzE41s130_provenance
a
np:Provenance
.
dgn-np:NP786082.RADgfQefCWR-4yhrZJ90ivtVW1Oyk66HuzctYAnjzE41s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP786082.RADgfQefCWR-4yhrZJ90ivtVW1Oyk66HuzctYAnjzE41s130_assertion
{
miriam-gene:2200
a
ncit:C16612
.
lld:C0600033
a
ncit:C7057
.
dgn-gda:DGN1c2c6d43f195886a33464e1616427b80
sio:SIO_000628
miriam-gene:2200
,
lld:C0600033
;
a
sio:SIO_001121
.
}
dgn-np:NP786082.RADgfQefCWR-4yhrZJ90ivtVW1Oyk66HuzctYAnjzE41s130_provenance
{
dgn-np:NP786082.RADgfQefCWR-4yhrZJ90ivtVW1Oyk66HuzctYAnjzE41s130_assertion
dcterms:description
"[To our knowledge, this is the first report of a family with an FBN1 gene mutation cosegregating with an unusual autosomal dominant progressive kyphoscoliosis of variable severity, together with radiological abnormalities of the spine, and some skeletal but no ocular or cardiac manifestations of Marfan syndrome.]. 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:11992479
;
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:NP786082.RADgfQefCWR-4yhrZJ90ivtVW1Oyk66HuzctYAnjzE41s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:56+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" .
}