@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1244644.RAbDngRMa5c7gBRwVD7hD5wqjdbPoPq2ynWUzJ0nC0HWU
> .
@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:NP1244644.RAbDngRMa5c7gBRwVD7hD5wqjdbPoPq2ynWUzJ0nC0HWU130_head
{
this:
np:hasAssertion
dgn-np:NP1244644.RAbDngRMa5c7gBRwVD7hD5wqjdbPoPq2ynWUzJ0nC0HWU130_assertion
;
np:hasProvenance
dgn-np:NP1244644.RAbDngRMa5c7gBRwVD7hD5wqjdbPoPq2ynWUzJ0nC0HWU130_provenance
;
np:hasPublicationInfo
dgn-np:NP1244644.RAbDngRMa5c7gBRwVD7hD5wqjdbPoPq2ynWUzJ0nC0HWU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1244644.RAbDngRMa5c7gBRwVD7hD5wqjdbPoPq2ynWUzJ0nC0HWU130_assertion
a
np:Assertion
.
dgn-np:NP1244644.RAbDngRMa5c7gBRwVD7hD5wqjdbPoPq2ynWUzJ0nC0HWU130_provenance
a
np:Provenance
.
dgn-np:NP1244644.RAbDngRMa5c7gBRwVD7hD5wqjdbPoPq2ynWUzJ0nC0HWU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1244644.RAbDngRMa5c7gBRwVD7hD5wqjdbPoPq2ynWUzJ0nC0HWU130_assertion
{
miriam-gene:55636
a
ncit:C16612
.
lld:C0265354
a
ncit:C7057
.
dgn-gda:DGN588c9e3e83d3ea0b8704bcc1c02baeef
sio:SIO_000628
miriam-gene:55636
,
lld:C0265354
;
a
sio:SIO_001121
.
}
dgn-np:NP1244644.RAbDngRMa5c7gBRwVD7hD5wqjdbPoPq2ynWUzJ0nC0HWU130_provenance
{
dgn-np:NP1244644.RAbDngRMa5c7gBRwVD7hD5wqjdbPoPq2ynWUzJ0nC0HWU130_assertion
dcterms:description
"[Taken together, our data suggest that rare deleterious CHD7 alleles contribute to the mutational burden of patients with both KS and normosmic forms of IGD in the absence of full CHARGE syndrome.]. 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:25472840
;
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:NP1244644.RAbDngRMa5c7gBRwVD7hD5wqjdbPoPq2ynWUzJ0nC0HWU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:10+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" .
}