@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU
> .
@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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;
np:hasPublicationInfo
dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_assertion
a
np:Assertion
.
dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_provenance
a
np:Provenance
.
dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_publicationInfo
a
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{
miriam-gene:2688
a
ncit:C16612
.
lld:C0271568
a
ncit:C7057
.
dgn-gda:DGN3896bc274bd5d2c3b5b90ada23dbf659
sio:SIO_000628
miriam-gene:2688
,
lld:C0271568
;
a
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.
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dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_provenance
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dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_assertion
dcterms:description
"[In two patients with growth hormone (GH) insensitivity syndrome (Laron syndrome), in whom the GH receptor is able to bind the hormone, the D152H mutation was identified, and lack of dimerization was proposed to explain GH resistance in these patients.]. 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:9723864
;
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;
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 .
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dgn-np:NP1403148.RA14HEz-wejzbEq_yTrrsHDtrzZEgYTSJR0hI_oc-InTU130_publicationInfo
{
this:
dcterms:created
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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
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<
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> , <
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> , <
http://orcid.org/0000-0002-9383-528X
> , <
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> , <
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> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
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"v4.0.0" .
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