@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP220456.RA8oqm-EO7JtWY6dCunaVZgIBf8OawDc8_FGWlW0j_gvs
> .
@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:NP220456.RA8oqm-EO7JtWY6dCunaVZgIBf8OawDc8_FGWlW0j_gvs130_head
{
this:
np:hasAssertion
dgn-np:NP220456.RA8oqm-EO7JtWY6dCunaVZgIBf8OawDc8_FGWlW0j_gvs130_assertion
;
np:hasProvenance
dgn-np:NP220456.RA8oqm-EO7JtWY6dCunaVZgIBf8OawDc8_FGWlW0j_gvs130_provenance
;
np:hasPublicationInfo
dgn-np:NP220456.RA8oqm-EO7JtWY6dCunaVZgIBf8OawDc8_FGWlW0j_gvs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP220456.RA8oqm-EO7JtWY6dCunaVZgIBf8OawDc8_FGWlW0j_gvs130_assertion
a
np:Assertion
.
dgn-np:NP220456.RA8oqm-EO7JtWY6dCunaVZgIBf8OawDc8_FGWlW0j_gvs130_provenance
a
np:Provenance
.
dgn-np:NP220456.RA8oqm-EO7JtWY6dCunaVZgIBf8OawDc8_FGWlW0j_gvs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP220456.RA8oqm-EO7JtWY6dCunaVZgIBf8OawDc8_FGWlW0j_gvs130_assertion
{
miriam-gene:1785
a
ncit:C16612
.
lld:C1835564
a
ncit:C7057
.
dgn-gda:DGNbf331bc1e9275a14d04cb24dfd822d08
sio:SIO_000628
miriam-gene:1785
,
lld:C1835564
;
a
sio:SIO_001121
.
}
dgn-np:NP220456.RA8oqm-EO7JtWY6dCunaVZgIBf8OawDc8_FGWlW0j_gvs130_provenance
{
dgn-np:NP220456.RA8oqm-EO7JtWY6dCunaVZgIBf8OawDc8_FGWlW0j_gvs130_assertion
dcterms:description
"[The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B.]. 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:15994868
;
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:NP220456.RA8oqm-EO7JtWY6dCunaVZgIBf8OawDc8_FGWlW0j_gvs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:02+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" .
}