@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY
> .
@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:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_head
{
this:
np:hasAssertion
dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_assertion
;
np:hasProvenance
dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_provenance
;
np:hasPublicationInfo
dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_assertion
a
np:Assertion
.
dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_provenance
a
np:Provenance
.
dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_assertion
{
miriam-gene:1277
a
ncit:C16612
.
lld:C0029434
a
ncit:C7057
.
dgn-gda:DGN12a44255c07f6c6f76898eeed55aa0a5
sio:SIO_000628
miriam-gene:1277
,
lld:C0029434
;
a
sio:SIO_001121
.
}
dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_provenance
{
dgn-np:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_assertion
dcterms:description
"[To uncover the molecular pathogenic mechanism of congenital osteogenesis imperfecta (OI) type I, all the 103 exons of the COL1A1 (Collagen, type Ⅰ, alpha 1) and COL1A2 (Collagen, type Ⅰ, alpha 2) genes in a child with OI type Ⅰ were screened using PCR-DNA direct sequencing.]. 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:25608812
;
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:NP1257316.RAgXE3O-5AWm9It7VwyqS76M5CT1ZlS-Ya5iiYYxrkAAY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:16+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" .
}