@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4
> .
@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 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:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_head
{
this:
np:hasAssertion
dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_assertion
;
np:hasProvenance
dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_provenance
;
np:hasPublicationInfo
dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_assertion
a
np:Assertion
.
dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_provenance
a
np:Provenance
.
dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_assertion
{
miriam-gene:1277
a
ncit:C16612
.
lld:C0029434
a
ncit:C7057
.
dgn-gda:DGN243018cb1378968283471faf5983748e
sio:SIO_000628
miriam-gene:1277
,
lld:C0029434
;
a
sio:SIO_001121
.
}
dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_provenance
{
dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_assertion
dct:description
"[We identified a mutation in the carboxyl-terminal propeptide coding region of one COL1A1 allele in an infant who died with an OI phenotype that differed from the usual lethal form and had regions of increased bone density.]. 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:11826020
;
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:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_publicationInfo
{
this:
dct:created
"2014-10-02T12:33:34+02:00"^^
xsd:dateTime
;
dct:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dct:rightsHolder
dgn-void:IBIGroup
;
dct:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}