@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP231628.RA7PJ2s1I1w1izrz0kXx4k10hsxFX9YYi9OBTIzp_ptb4
> .
@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:NP231628.RA7PJ2s1I1w1izrz0kXx4k10hsxFX9YYi9OBTIzp_ptb4130_head
{
this:
np:hasAssertion
dgn-np:NP231628.RA7PJ2s1I1w1izrz0kXx4k10hsxFX9YYi9OBTIzp_ptb4130_assertion
;
np:hasProvenance
dgn-np:NP231628.RA7PJ2s1I1w1izrz0kXx4k10hsxFX9YYi9OBTIzp_ptb4130_provenance
;
np:hasPublicationInfo
dgn-np:NP231628.RA7PJ2s1I1w1izrz0kXx4k10hsxFX9YYi9OBTIzp_ptb4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP231628.RA7PJ2s1I1w1izrz0kXx4k10hsxFX9YYi9OBTIzp_ptb4130_assertion
a
np:Assertion
.
dgn-np:NP231628.RA7PJ2s1I1w1izrz0kXx4k10hsxFX9YYi9OBTIzp_ptb4130_provenance
a
np:Provenance
.
dgn-np:NP231628.RA7PJ2s1I1w1izrz0kXx4k10hsxFX9YYi9OBTIzp_ptb4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP231628.RA7PJ2s1I1w1izrz0kXx4k10hsxFX9YYi9OBTIzp_ptb4130_assertion
{
miriam-gene:4647
a
ncit:C16612
.
lld:C0581883
a
ncit:C7057
.
dgn-gda:DGNd19acfa76165bbf6f54b6507c5442db5
sio:SIO_000628
miriam-gene:4647
,
lld:C0581883
;
a
sio:SIO_001121
.
}
dgn-np:NP231628.RA7PJ2s1I1w1izrz0kXx4k10hsxFX9YYi9OBTIzp_ptb4130_provenance
{
dgn-np:NP231628.RA7PJ2s1I1w1izrz0kXx4k10hsxFX9YYi9OBTIzp_ptb4130_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: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:NP231628.RA7PJ2s1I1w1izrz0kXx4k10hsxFX9YYi9OBTIzp_ptb4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:10+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" .
}