@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_head
{
this:
np:hasAssertion
dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_assertion
;
np:hasProvenance
dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_provenance
;
np:hasPublicationInfo
dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_assertion
a
np:Assertion
.
dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_provenance
a
np:Provenance
.
dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_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:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_provenance
{
dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_assertion
dcterms: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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:21+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}