@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg
> .
@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:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_head
{
this:
np:hasAssertion
dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_assertion
;
np:hasProvenance
dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_provenance
;
np:hasPublicationInfo
dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_assertion
a
np:Assertion
.
dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_provenance
a
np:Provenance
.
dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_assertion
{
miriam-gene:146
a
ncit:C16612
.
lld:C0029434
a
ncit:C7057
.
dgn-gda:DGNeb18518087ce94da97efed6ce767f2a2
sio:SIO_000628
miriam-gene:146
,
lld:C0029434
;
a
sio:SIO_001121
.
}
dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_provenance
{
dgn-np:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_assertion
dcterms:description
"[In contrast to cysteine for glycine substitutions in the alpha 1(I) chain, the severity of the osteogenesis imperfecta phenotype is not directly proportional to the distance of the mutation from the amino-terminal end of the triple helix.]. 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:1990009
;
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:NP774659.RA526U5MyRxBwKKjsg3ozOnEhq6uN7c9Qn6Dpy3y88VZg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:36+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" .
}