@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP290975.RAIhMSGLdOQqN1NF5nmiNBMC6jknr8IyUdS_fDNwI8cfc
> .
@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:NP290975.RAIhMSGLdOQqN1NF5nmiNBMC6jknr8IyUdS_fDNwI8cfc130_head
{
this:
np:hasAssertion
dgn-np:NP290975.RAIhMSGLdOQqN1NF5nmiNBMC6jknr8IyUdS_fDNwI8cfc130_assertion
;
np:hasProvenance
dgn-np:NP290975.RAIhMSGLdOQqN1NF5nmiNBMC6jknr8IyUdS_fDNwI8cfc130_provenance
;
np:hasPublicationInfo
dgn-np:NP290975.RAIhMSGLdOQqN1NF5nmiNBMC6jknr8IyUdS_fDNwI8cfc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP290975.RAIhMSGLdOQqN1NF5nmiNBMC6jknr8IyUdS_fDNwI8cfc130_assertion
a
np:Assertion
.
dgn-np:NP290975.RAIhMSGLdOQqN1NF5nmiNBMC6jknr8IyUdS_fDNwI8cfc130_provenance
a
np:Provenance
.
dgn-np:NP290975.RAIhMSGLdOQqN1NF5nmiNBMC6jknr8IyUdS_fDNwI8cfc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP290975.RAIhMSGLdOQqN1NF5nmiNBMC6jknr8IyUdS_fDNwI8cfc130_assertion
{
miriam-gene:2706
a
ncit:C16612
.
lld:C0155552
a
ncit:C7057
.
dgn-gda:DGN8ec359b6243edf9bcc5c2552a08a4a82
sio:SIO_000628
miriam-gene:2706
,
lld:C0155552
;
a
sio:SIO_001121
.
}
dgn-np:NP290975.RAIhMSGLdOQqN1NF5nmiNBMC6jknr8IyUdS_fDNwI8cfc130_provenance
{
dgn-np:NP290975.RAIhMSGLdOQqN1NF5nmiNBMC6jknr8IyUdS_fDNwI8cfc130_assertion
dcterms:description
"[The discovery of the genes responsible of hearing loss in particular the identification of mutations in the gene coding for connexin 26 allows to hope some tremendous help in genetic counseling.]. 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:10928803
;
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:NP290975.RAIhMSGLdOQqN1NF5nmiNBMC6jknr8IyUdS_fDNwI8cfc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:57+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" .
}