@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP4350.RAMiyMG7FayUgobvXpBGTrugfuurs2GjcJhEeMNNGf3Jc
> .
@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:NP4350.RAMiyMG7FayUgobvXpBGTrugfuurs2GjcJhEeMNNGf3Jc130_head
{
this:
np:hasAssertion
dgn-np:NP4350.RAMiyMG7FayUgobvXpBGTrugfuurs2GjcJhEeMNNGf3Jc130_assertion
;
np:hasProvenance
dgn-np:NP4350.RAMiyMG7FayUgobvXpBGTrugfuurs2GjcJhEeMNNGf3Jc130_provenance
;
np:hasPublicationInfo
dgn-np:NP4350.RAMiyMG7FayUgobvXpBGTrugfuurs2GjcJhEeMNNGf3Jc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP4350.RAMiyMG7FayUgobvXpBGTrugfuurs2GjcJhEeMNNGf3Jc130_assertion
a
np:Assertion
.
dgn-np:NP4350.RAMiyMG7FayUgobvXpBGTrugfuurs2GjcJhEeMNNGf3Jc130_provenance
a
np:Provenance
.
dgn-np:NP4350.RAMiyMG7FayUgobvXpBGTrugfuurs2GjcJhEeMNNGf3Jc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP4350.RAMiyMG7FayUgobvXpBGTrugfuurs2GjcJhEeMNNGf3Jc130_assertion
{
miriam-gene:4647
a
ncit:C16612
.
lld:C1568247
a
ncit:C7057
.
dgn-gda:DGN77c0d8ee70c756339d903474abd2ace6
sio:SIO_000628
miriam-gene:4647
,
lld:C1568247
;
a
sio:SIO_001122
.
}
dgn-np:NP4350.RAMiyMG7FayUgobvXpBGTrugfuurs2GjcJhEeMNNGf3Jc130_provenance
{
dgn-np:NP4350.RAMiyMG7FayUgobvXpBGTrugfuurs2GjcJhEeMNNGf3Jc130_assertion
dcterms:description
"[Primers covering the complete myosin VIIA coding sequence as well as the 3' non coding sequence were designed, allowing direct sequence analysis of each of the 48 coding exons and flanking splice sites in seven patients affected by USH1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:9002678
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP4350.RAMiyMG7FayUgobvXpBGTrugfuurs2GjcJhEeMNNGf3Jc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:00+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" .
}