@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
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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/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
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#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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{
this:
np:hasAssertion
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;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_assertion
a
np:Assertion
.
dgn-np:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_provenance
a
np:Provenance
.
dgn-np:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_publicationInfo
a
np:PublicationInfo
.
}
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{
miriam-gene:1300
a
ncit:C16612
.
lld:C1868678
a
ncit:C7057
.
dgn-gda:DGNcd3bd1feba4cb920bed94832e4906a47
sio:SIO_000628
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,
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;
a
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.
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dgn-np:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_provenance
{
dgn-np:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_assertion
dcterms:description
"[We investigated whether mutations within the human COL10A1 gene were responsible for causing the disorders achondroplasia, hypochondroplasia, pseudoachondroplasia, and thanatophoric dysplasia, by analyzing the coding regions of the gene by using PCR and the single-stranded conformational polymorphism technique.]. 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:1329505
;
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:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
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pav:authoredBy
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> , <
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> , <
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> ;
pav:createdBy
<
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