@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP472939.RAR04sqzf8RKrHbMnstzR4KOvPYzPOGaAfW6V_R-_LKCg
> .
@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:NP472939.RAR04sqzf8RKrHbMnstzR4KOvPYzPOGaAfW6V_R-_LKCg130_head
{
this:
np:hasAssertion
dgn-np:NP472939.RAR04sqzf8RKrHbMnstzR4KOvPYzPOGaAfW6V_R-_LKCg130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP472939.RAR04sqzf8RKrHbMnstzR4KOvPYzPOGaAfW6V_R-_LKCg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP472939.RAR04sqzf8RKrHbMnstzR4KOvPYzPOGaAfW6V_R-_LKCg130_assertion
a
np:Assertion
.
dgn-np:NP472939.RAR04sqzf8RKrHbMnstzR4KOvPYzPOGaAfW6V_R-_LKCg130_provenance
a
np:Provenance
.
dgn-np:NP472939.RAR04sqzf8RKrHbMnstzR4KOvPYzPOGaAfW6V_R-_LKCg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP472939.RAR04sqzf8RKrHbMnstzR4KOvPYzPOGaAfW6V_R-_LKCg130_assertion
{
miriam-gene:2706
a
ncit:C16612
.
lld:C3711374
a
ncit:C7057
.
dgn-gda:DGN33e36fd35feda68409264dc2e48437bc
sio:SIO_000628
miriam-gene:2706
,
lld:C3711374
;
a
sio:SIO_001122
.
}
dgn-np:NP472939.RAR04sqzf8RKrHbMnstzR4KOvPYzPOGaAfW6V_R-_LKCg130_provenance
{
dgn-np:NP472939.RAR04sqzf8RKrHbMnstzR4KOvPYzPOGaAfW6V_R-_LKCg130_assertion
dcterms:description
"[Using PCR amplifying the entire coding region of GJB2 gene and direct DNA sequencing to analyze mutations in this gene among unrelated 69 cases with autosomal recessive congenital nonsyndromic deafness and 27 cases of dominant congenital deafness and 35 sporadic cases.]. 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:15603707
;
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:NP472939.RAR04sqzf8RKrHbMnstzR4KOvPYzPOGaAfW6V_R-_LKCg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:19+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" .
}