@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP862596.RA8YYYTHg1riPf0sHT9ML7c2E-R7f_HgnkW6xQZipXb1U
> .
@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/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#
> .
dgn-np:NP862596.RA8YYYTHg1riPf0sHT9ML7c2E-R7f_HgnkW6xQZipXb1U130_head
{
this:
np:hasAssertion
dgn-np:NP862596.RA8YYYTHg1riPf0sHT9ML7c2E-R7f_HgnkW6xQZipXb1U130_assertion
;
np:hasProvenance
dgn-np:NP862596.RA8YYYTHg1riPf0sHT9ML7c2E-R7f_HgnkW6xQZipXb1U130_provenance
;
np:hasPublicationInfo
dgn-np:NP862596.RA8YYYTHg1riPf0sHT9ML7c2E-R7f_HgnkW6xQZipXb1U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP862596.RA8YYYTHg1riPf0sHT9ML7c2E-R7f_HgnkW6xQZipXb1U130_assertion
a
np:Assertion
.
dgn-np:NP862596.RA8YYYTHg1riPf0sHT9ML7c2E-R7f_HgnkW6xQZipXb1U130_provenance
a
np:Provenance
.
dgn-np:NP862596.RA8YYYTHg1riPf0sHT9ML7c2E-R7f_HgnkW6xQZipXb1U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP862596.RA8YYYTHg1riPf0sHT9ML7c2E-R7f_HgnkW6xQZipXb1U130_assertion
{
miriam-gene:3975
a
ncit:C16612
.
lld:C1698581
a
ncit:C7057
.
dgn-gda:DGN293eb9eecf3304faf1704e3cd31d070b
sio:SIO_000628
miriam-gene:3975
,
lld:C1698581
;
a
sio:SIO_001121
.
}
dgn-np:NP862596.RA8YYYTHg1riPf0sHT9ML7c2E-R7f_HgnkW6xQZipXb1U130_provenance
{
dgn-np:NP862596.RA8YYYTHg1riPf0sHT9ML7c2E-R7f_HgnkW6xQZipXb1U130_assertion
dcterms:description
"[We could delineate three definitively relevant regions (1q21.1, 17q12, and 22q11.21) and suggest that LHX1 und HNF1B are candidate genes for MRKH syndrome, because we identified recurrent deletions affecting these genes and a possible causative missense mutation in LHX1.]. 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:20797712
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
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 .
}
dgn-np:NP862596.RA8YYYTHg1riPf0sHT9ML7c2E-R7f_HgnkW6xQZipXb1U130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:47+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}