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http://rdf.disgenet.org/nanopublications.trig#NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI
> .
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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#
> .
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http://linkedlifedata.com/resource/umls/id/
> .
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http://identifiers.org/ncbigene/
> .
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http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
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http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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{
this:
np:hasAssertion
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dgn-np:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_assertion
a
np:Assertion
.
dgn-np:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_provenance
a
np:Provenance
.
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a
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.
}
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{
miriam-gene:1277
a
ncit:C16612
.
lld:C0268358
a
ncit:C7057
.
dgn-gda:DGN6ce333dccc6aad997905464ea67ec68f
sio:SIO_000628
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,
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;
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dgn-np:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_provenance
{
dgn-np:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_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
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sio:SIO_000772
miriam-pubmed:7487936
;
prov:wasDerivedFrom
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prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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 .
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dgn-np:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
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prv:usedData
dgn-void:disgenetrdf
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> , <
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http://orcid.org/0000-0002-9383-528X
> , <
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> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
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