@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP661260.RACXuld8TfqlSDZHkaxlC1WcalqELxbsTziW24L4cxz8A
> .
@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:NP661260.RACXuld8TfqlSDZHkaxlC1WcalqELxbsTziW24L4cxz8A130_head
{
this:
np:hasAssertion
dgn-np:NP661260.RACXuld8TfqlSDZHkaxlC1WcalqELxbsTziW24L4cxz8A130_assertion
;
np:hasProvenance
dgn-np:NP661260.RACXuld8TfqlSDZHkaxlC1WcalqELxbsTziW24L4cxz8A130_provenance
;
np:hasPublicationInfo
dgn-np:NP661260.RACXuld8TfqlSDZHkaxlC1WcalqELxbsTziW24L4cxz8A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP661260.RACXuld8TfqlSDZHkaxlC1WcalqELxbsTziW24L4cxz8A130_assertion
a
np:Assertion
.
dgn-np:NP661260.RACXuld8TfqlSDZHkaxlC1WcalqELxbsTziW24L4cxz8A130_provenance
a
np:Provenance
.
dgn-np:NP661260.RACXuld8TfqlSDZHkaxlC1WcalqELxbsTziW24L4cxz8A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP661260.RACXuld8TfqlSDZHkaxlC1WcalqELxbsTziW24L4cxz8A130_assertion
{
miriam-gene:4646
a
ncit:C16612
.
lld:C0878544
a
ncit:C7057
.
dgn-gda:DGN61654d453e65820a0c1f05b0bb23b1d0
sio:SIO_000628
miriam-gene:4646
,
lld:C0878544
;
a
sio:SIO_001122
.
}
dgn-np:NP661260.RACXuld8TfqlSDZHkaxlC1WcalqELxbsTziW24L4cxz8A130_provenance
{
dgn-np:NP661260.RACXuld8TfqlSDZHkaxlC1WcalqELxbsTziW24L4cxz8A130_assertion
dcterms:description
"[Two missense mutations in MYO6 (p.C442Y and p.H246R) have been characterized in families of Italian and American Caucasian extraction with autosomal dominant hearing loss, respectively, and the latter was associated with cardiomyopathy in some patients.]. 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:18348273
;
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:NP661260.RACXuld8TfqlSDZHkaxlC1WcalqELxbsTziW24L4cxz8A130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:45+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: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" .
}