@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP192375.RAlVlsSWllzpEZe4cXGGKw51ixSPuLDYK7i5oiWh1WY1w
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP192375.RAlVlsSWllzpEZe4cXGGKw51ixSPuLDYK7i5oiWh1WY1w130_head
{
this:
np:hasAssertion
dgn-np:NP192375.RAlVlsSWllzpEZe4cXGGKw51ixSPuLDYK7i5oiWh1WY1w130_assertion
;
np:hasProvenance
dgn-np:NP192375.RAlVlsSWllzpEZe4cXGGKw51ixSPuLDYK7i5oiWh1WY1w130_provenance
;
np:hasPublicationInfo
dgn-np:NP192375.RAlVlsSWllzpEZe4cXGGKw51ixSPuLDYK7i5oiWh1WY1w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP192375.RAlVlsSWllzpEZe4cXGGKw51ixSPuLDYK7i5oiWh1WY1w130_assertion
a
np:Assertion
.
dgn-np:NP192375.RAlVlsSWllzpEZe4cXGGKw51ixSPuLDYK7i5oiWh1WY1w130_provenance
a
np:Provenance
.
dgn-np:NP192375.RAlVlsSWllzpEZe4cXGGKw51ixSPuLDYK7i5oiWh1WY1w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP192375.RAlVlsSWllzpEZe4cXGGKw51ixSPuLDYK7i5oiWh1WY1w130_assertion
{
miriam-gene:65217
a
ncit:C16612
.
lld:C0011053
a
ncit:C7057
.
dgn-gda:DGNb5d38636c4366d3e128035219c20ce6b
sio:SIO_000628
miriam-gene:65217
,
lld:C0011053
;
a
sio:SIO_001121
.
}
dgn-np:NP192375.RAlVlsSWllzpEZe4cXGGKw51ixSPuLDYK7i5oiWh1WY1w130_provenance
{
dgn-np:NP192375.RAlVlsSWllzpEZe4cXGGKw51ixSPuLDYK7i5oiWh1WY1w130_assertion
dcterms:description
"[To estimate what percentage of Ashkenazi Jewish children born with profound hearing loss will develop RP due to R245X, we examined the prevalence of the R245X PCDH15 mutation and its carrier rate among Ashkenazi Jews in Israel.]. 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:15028842
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP192375.RAlVlsSWllzpEZe4cXGGKw51ixSPuLDYK7i5oiWh1WY1w130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:45+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}