@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP870020.RAWN6Yl59RAwzK4Z0euD4pj-aK_zYT_K6jcIZloTYRSEI
> .
@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/
> .
dgn-np:NP870020.RAWN6Yl59RAwzK4Z0euD4pj-aK_zYT_K6jcIZloTYRSEI130_head
{
this:
np:hasAssertion
dgn-np:NP870020.RAWN6Yl59RAwzK4Z0euD4pj-aK_zYT_K6jcIZloTYRSEI130_assertion
;
np:hasProvenance
dgn-np:NP870020.RAWN6Yl59RAwzK4Z0euD4pj-aK_zYT_K6jcIZloTYRSEI130_provenance
;
np:hasPublicationInfo
dgn-np:NP870020.RAWN6Yl59RAwzK4Z0euD4pj-aK_zYT_K6jcIZloTYRSEI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP870020.RAWN6Yl59RAwzK4Z0euD4pj-aK_zYT_K6jcIZloTYRSEI130_assertion
a
np:Assertion
.
dgn-np:NP870020.RAWN6Yl59RAwzK4Z0euD4pj-aK_zYT_K6jcIZloTYRSEI130_provenance
a
np:Provenance
.
dgn-np:NP870020.RAWN6Yl59RAwzK4Z0euD4pj-aK_zYT_K6jcIZloTYRSEI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP870020.RAWN6Yl59RAwzK4Z0euD4pj-aK_zYT_K6jcIZloTYRSEI130_assertion
{
miriam-gene:6870
a
ncit:C16612
.
lld:C0342538
a
ncit:C7057
.
dgn-gda:DGNda630e98080234f0bfe181fde45e2c45
sio:SIO_000628
miriam-gene:6870
,
lld:C0342538
;
a
sio:SIO_001122
.
}
dgn-np:NP870020.RAWN6Yl59RAwzK4Z0euD4pj-aK_zYT_K6jcIZloTYRSEI130_provenance
{
dgn-np:NP870020.RAWN6Yl59RAwzK4Z0euD4pj-aK_zYT_K6jcIZloTYRSEI130_assertion
dcterms:description
"[Although one male subject carried a previously undescribed heterozygous deletion (Phe309del) in GNRHR, which segregated with delayed puberty in his family, mutations in the coding regions of FGFR1, GNRHR, TAC3, and TACR3 are not likely to underlie common constitutional delay of growth and puberty.]. 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:21292259
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
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 .
}
dgn-np:NP870020.RAWN6Yl59RAwzK4Z0euD4pj-aK_zYT_K6jcIZloTYRSEI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:19+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}