@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP319091.RA20otvUW5NHjy18MGfmJOjQyeOmHkbeNmBy-tZeBwQ-U
> .
@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/v3.0.0/void/
> .
dgn-np:NP319091.RA20otvUW5NHjy18MGfmJOjQyeOmHkbeNmBy-tZeBwQ-U130_head
{
this:
np:hasAssertion
dgn-np:NP319091.RA20otvUW5NHjy18MGfmJOjQyeOmHkbeNmBy-tZeBwQ-U130_assertion
;
np:hasProvenance
dgn-np:NP319091.RA20otvUW5NHjy18MGfmJOjQyeOmHkbeNmBy-tZeBwQ-U130_provenance
;
np:hasPublicationInfo
dgn-np:NP319091.RA20otvUW5NHjy18MGfmJOjQyeOmHkbeNmBy-tZeBwQ-U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP319091.RA20otvUW5NHjy18MGfmJOjQyeOmHkbeNmBy-tZeBwQ-U130_assertion
a
np:Assertion
.
dgn-np:NP319091.RA20otvUW5NHjy18MGfmJOjQyeOmHkbeNmBy-tZeBwQ-U130_provenance
a
np:Provenance
.
dgn-np:NP319091.RA20otvUW5NHjy18MGfmJOjQyeOmHkbeNmBy-tZeBwQ-U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP319091.RA20otvUW5NHjy18MGfmJOjQyeOmHkbeNmBy-tZeBwQ-U130_assertion
{
miriam-gene:1277
a
ncit:C16612
.
lld:C0268358
a
ncit:C7057
.
dgn-gda:DGN155fe73fe777cd373a6f9ff9be84ea88
sio:SIO_000628
miriam-gene:1277
,
lld:C0268358
;
a
sio:SIO_001122
.
}
dgn-np:NP319091.RA20otvUW5NHjy18MGfmJOjQyeOmHkbeNmBy-tZeBwQ-U130_provenance
{
dgn-np:NP319091.RA20otvUW5NHjy18MGfmJOjQyeOmHkbeNmBy-tZeBwQ-U130_assertion
dcterms:description
"[We identified two infants with lethal (type II) osteogenesis imperfecta (OI) who were heterozygous for mutations in the COL1A1 gene that resulted in substitutions of aspartic acid for glycine at position 220 and arginine for glycine at position 664 in the product of one COL1A1 allele in each individual.]. 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:7487936
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP319091.RA20otvUW5NHjy18MGfmJOjQyeOmHkbeNmBy-tZeBwQ-U130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:43+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}