@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44
> .
@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:NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_head
{
this:
np:hasAssertion
dgn-np:NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_assertion
a
np:Assertion
.
dgn-np:NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_provenance
a
np:Provenance
.
dgn-np:NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_publicationInfo
a
np:PublicationInfo
.
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{
miriam-gene:55636
a
ncit:C16612
.
lld:C0162809
a
ncit:C7057
.
dgn-gda:DGN0dcc4e6aeb57be9db2810928f204014a
sio:SIO_000628
miriam-gene:55636
,
lld:C0162809
;
a
sio:SIO_001121
.
}
dgn-np:NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_provenance
{
dgn-np:NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_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
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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:NP1244643.RAX8eJM_CQe_NJBKdn1F6Ig91aGKBUHv0tZileFHb-T44130_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
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;
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" .
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pav:version
"v4.0.0" .
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