@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP619466.RAPiJ_fPoyzCO7C_tYM_b4plJryKSnfwbBslrmtVZEnbk
> .
@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:NP619466.RAPiJ_fPoyzCO7C_tYM_b4plJryKSnfwbBslrmtVZEnbk130_head
{
this:
np:hasAssertion
dgn-np:NP619466.RAPiJ_fPoyzCO7C_tYM_b4plJryKSnfwbBslrmtVZEnbk130_assertion
;
np:hasProvenance
dgn-np:NP619466.RAPiJ_fPoyzCO7C_tYM_b4plJryKSnfwbBslrmtVZEnbk130_provenance
;
np:hasPublicationInfo
dgn-np:NP619466.RAPiJ_fPoyzCO7C_tYM_b4plJryKSnfwbBslrmtVZEnbk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP619466.RAPiJ_fPoyzCO7C_tYM_b4plJryKSnfwbBslrmtVZEnbk130_assertion
a
np:Assertion
.
dgn-np:NP619466.RAPiJ_fPoyzCO7C_tYM_b4plJryKSnfwbBslrmtVZEnbk130_provenance
a
np:Provenance
.
dgn-np:NP619466.RAPiJ_fPoyzCO7C_tYM_b4plJryKSnfwbBslrmtVZEnbk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP619466.RAPiJ_fPoyzCO7C_tYM_b4plJryKSnfwbBslrmtVZEnbk130_assertion
{
miriam-gene:55636
a
ncit:C16612
.
lld:C0265354
a
ncit:C7057
.
dgn-gda:DGNc049e11803d3816c60cf02a8c4463c26
sio:SIO_000628
miriam-gene:55636
,
lld:C0265354
;
a
sio:SIO_001121
.
}
dgn-np:NP619466.RAPiJ_fPoyzCO7C_tYM_b4plJryKSnfwbBslrmtVZEnbk130_provenance
{
dgn-np:NP619466.RAPiJ_fPoyzCO7C_tYM_b4plJryKSnfwbBslrmtVZEnbk130_assertion
dcterms:description
"[Since two of the four cases presented with choanal atresia, large deletions including SALL4 should be considered in the differential diagnosis of children with suspected CHARGE syndrome but without detectable CHD7 mutations.]. 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:17623483
;
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:NP619466.RAPiJ_fPoyzCO7C_tYM_b4plJryKSnfwbBslrmtVZEnbk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:26+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" .
}