@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI
> .
@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/
> .
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{
this:
np:hasAssertion
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np:hasProvenance
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dgn-np:NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_publicationInfo
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a
np:Nanopublication
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a
np:Assertion
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a
np:Provenance
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{
miriam-gene:2253
a
ncit:C16612
.
lld:C0344232
a
ncit:C7057
.
dgn-gda:DGN1208f458eaca2f54d33be19fec03237c
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,
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;
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.
}
dgn-np:NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_provenance
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dgn-np:NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_assertion
dcterms:description
"[Several themes have emerged as the genetic basis of HH has gradually been uncovered, including the association of some genes such as FGFR1, FGF8, PROK2 and PROKR2, both with HH in association with hyposmia/anosmia (Kallmann syndrome) and with normosmic HH, thus blurring the clinical distinction between ontogenic and purely functional defects in the axis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
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sio:SIO_000772
miriam-pubmed:19719764
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eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
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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:NP760362.RAPs0YHLnOCXNK3SeE14_eOWH6gHuwIkZ_irdjCLXhGUI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:29+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
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pav:authoredBy
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> , <
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> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
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<
http://orcid.org/0000-0003-0169-8159
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