@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP828497.RAUQvwa4tQmfYm1P8dwbHdk6TDy0e7-V1quhV4R5X8VGo
> .
@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:NP828497.RAUQvwa4tQmfYm1P8dwbHdk6TDy0e7-V1quhV4R5X8VGo130_head
{
this:
np:hasAssertion
dgn-np:NP828497.RAUQvwa4tQmfYm1P8dwbHdk6TDy0e7-V1quhV4R5X8VGo130_assertion
;
np:hasProvenance
dgn-np:NP828497.RAUQvwa4tQmfYm1P8dwbHdk6TDy0e7-V1quhV4R5X8VGo130_provenance
;
np:hasPublicationInfo
dgn-np:NP828497.RAUQvwa4tQmfYm1P8dwbHdk6TDy0e7-V1quhV4R5X8VGo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP828497.RAUQvwa4tQmfYm1P8dwbHdk6TDy0e7-V1quhV4R5X8VGo130_assertion
a
np:Assertion
.
dgn-np:NP828497.RAUQvwa4tQmfYm1P8dwbHdk6TDy0e7-V1quhV4R5X8VGo130_provenance
a
np:Provenance
.
dgn-np:NP828497.RAUQvwa4tQmfYm1P8dwbHdk6TDy0e7-V1quhV4R5X8VGo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP828497.RAUQvwa4tQmfYm1P8dwbHdk6TDy0e7-V1quhV4R5X8VGo130_assertion
{
miriam-gene:1278
a
ncit:C16612
.
lld:C0029434
a
ncit:C7057
.
dgn-gda:DGN12369e60a4719edf2e941e3c6d881a6e
sio:SIO_000628
miriam-gene:1278
,
lld:C0029434
;
a
sio:SIO_001121
.
}
dgn-np:NP828497.RAUQvwa4tQmfYm1P8dwbHdk6TDy0e7-V1quhV4R5X8VGo130_provenance
{
dgn-np:NP828497.RAUQvwa4tQmfYm1P8dwbHdk6TDy0e7-V1quhV4R5X8VGo130_assertion
dcterms:description
"[These data confirm that individuals with nonlethal OI may commonly harbor defects in the COL1A2 gene, and suggest that many of the defects are substitutions for glycine residues in the alpha 2(I) triple helical domain.]. 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:2066103
;
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:NP828497.RAUQvwa4tQmfYm1P8dwbHdk6TDy0e7-V1quhV4R5X8VGo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:00+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" .
}