@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP586120.RAhqYRsrlVEIR73C635u2L24pFb0L4V2x_DTi_oOqVADk
> .
@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:NP586120.RAhqYRsrlVEIR73C635u2L24pFb0L4V2x_DTi_oOqVADk130_head
{
this:
np:hasAssertion
dgn-np:NP586120.RAhqYRsrlVEIR73C635u2L24pFb0L4V2x_DTi_oOqVADk130_assertion
;
np:hasProvenance
dgn-np:NP586120.RAhqYRsrlVEIR73C635u2L24pFb0L4V2x_DTi_oOqVADk130_provenance
;
np:hasPublicationInfo
dgn-np:NP586120.RAhqYRsrlVEIR73C635u2L24pFb0L4V2x_DTi_oOqVADk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP586120.RAhqYRsrlVEIR73C635u2L24pFb0L4V2x_DTi_oOqVADk130_assertion
a
np:Assertion
.
dgn-np:NP586120.RAhqYRsrlVEIR73C635u2L24pFb0L4V2x_DTi_oOqVADk130_provenance
a
np:Provenance
.
dgn-np:NP586120.RAhqYRsrlVEIR73C635u2L24pFb0L4V2x_DTi_oOqVADk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP586120.RAhqYRsrlVEIR73C635u2L24pFb0L4V2x_DTi_oOqVADk130_assertion
{
miriam-gene:146
a
ncit:C16612
.
lld:C0029434
a
ncit:C7057
.
dgn-gda:DGNce7141e451b25e15bfa76cff0af45b2d
sio:SIO_000628
miriam-gene:146
,
lld:C0029434
;
a
sio:SIO_001122
.
}
dgn-np:NP586120.RAhqYRsrlVEIR73C635u2L24pFb0L4V2x_DTi_oOqVADk130_provenance
{
dgn-np:NP586120.RAhqYRsrlVEIR73C635u2L24pFb0L4V2x_DTi_oOqVADk130_assertion
dcterms:description
"[The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen.]. 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:1718984
;
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:NP586120.RAhqYRsrlVEIR73C635u2L24pFb0L4V2x_DTi_oOqVADk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:11+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" .
}