@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP426291.RAoAZwekvAEjah63TkV0ZCDtI4xDDSekhINrPfhI0JNrU
> .
@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/v3.0.0/void/
> .
dgn-np:NP426291.RAoAZwekvAEjah63TkV0ZCDtI4xDDSekhINrPfhI0JNrU130_head
{
this:
np:hasAssertion
dgn-np:NP426291.RAoAZwekvAEjah63TkV0ZCDtI4xDDSekhINrPfhI0JNrU130_assertion
;
np:hasProvenance
dgn-np:NP426291.RAoAZwekvAEjah63TkV0ZCDtI4xDDSekhINrPfhI0JNrU130_provenance
;
np:hasPublicationInfo
dgn-np:NP426291.RAoAZwekvAEjah63TkV0ZCDtI4xDDSekhINrPfhI0JNrU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP426291.RAoAZwekvAEjah63TkV0ZCDtI4xDDSekhINrPfhI0JNrU130_assertion
a
np:Assertion
.
dgn-np:NP426291.RAoAZwekvAEjah63TkV0ZCDtI4xDDSekhINrPfhI0JNrU130_provenance
a
np:Provenance
.
dgn-np:NP426291.RAoAZwekvAEjah63TkV0ZCDtI4xDDSekhINrPfhI0JNrU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP426291.RAoAZwekvAEjah63TkV0ZCDtI4xDDSekhINrPfhI0JNrU130_assertion
{
miriam-gene:2706
a
ncit:C16612
.
lld:C0015230
a
ncit:C7057
.
dgn-gda:DGN1bcdb6d32d2845348437b73cfb6fe81a
sio:SIO_000628
miriam-gene:2706
,
lld:C0015230
;
a
sio:SIO_001122
.
}
dgn-np:NP426291.RAoAZwekvAEjah63TkV0ZCDtI4xDDSekhINrPfhI0JNrU130_provenance
{
dgn-np:NP426291.RAoAZwekvAEjah63TkV0ZCDtI4xDDSekhINrPfhI0JNrU130_assertion
dcterms:description
"[We analyzed the GJB2 and SLC26A4 genes for the presence of mutations, screened for the mitochondrial DNA (mtDNA) A1555G mutation, and screened for congenital CMV infection in DNA isolated from dried newborn blood spots.]. 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:23555729
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP426291.RAoAZwekvAEjah63TkV0ZCDtI4xDDSekhINrPfhI0JNrU130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:48+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}