@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP69195.RAcJ3u9dKEGt6z73WgI_p51Ld92px_bldv_cTglzdymls
> .
@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:NP69195.RAcJ3u9dKEGt6z73WgI_p51Ld92px_bldv_cTglzdymls130_head
{
this:
np:hasAssertion
dgn-np:NP69195.RAcJ3u9dKEGt6z73WgI_p51Ld92px_bldv_cTglzdymls130_assertion
;
np:hasProvenance
dgn-np:NP69195.RAcJ3u9dKEGt6z73WgI_p51Ld92px_bldv_cTglzdymls130_provenance
;
np:hasPublicationInfo
dgn-np:NP69195.RAcJ3u9dKEGt6z73WgI_p51Ld92px_bldv_cTglzdymls130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP69195.RAcJ3u9dKEGt6z73WgI_p51Ld92px_bldv_cTglzdymls130_assertion
a
np:Assertion
.
dgn-np:NP69195.RAcJ3u9dKEGt6z73WgI_p51Ld92px_bldv_cTglzdymls130_provenance
a
np:Provenance
.
dgn-np:NP69195.RAcJ3u9dKEGt6z73WgI_p51Ld92px_bldv_cTglzdymls130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP69195.RAcJ3u9dKEGt6z73WgI_p51Ld92px_bldv_cTglzdymls130_assertion
{
miriam-gene:4647
a
ncit:C16612
.
lld:C0260662
a
ncit:C7057
.
dgn-gda:DGNbf3e90569d678ac7dd81fdd1a0443771
sio:SIO_000628
miriam-gene:4647
,
lld:C0260662
;
a
sio:SIO_001122
.
}
dgn-np:NP69195.RAcJ3u9dKEGt6z73WgI_p51Ld92px_bldv_cTglzdymls130_provenance
{
dgn-np:NP69195.RAcJ3u9dKEGt6z73WgI_p51Ld92px_bldv_cTglzdymls130_assertion
dcterms:description
"[Our results indicate that Arg206 and Thr381 residues in the motor head region of MYO7A protein are critical sites and the mutations of these residues may lead to the development of nonsyndromic deafness.]. 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:19299023
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP69195.RAcJ3u9dKEGt6z73WgI_p51Ld92px_bldv_cTglzdymls130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:33+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" .
}