@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP257247.RAAOHDGQU2fuMCbZjJn3hvwVlYneMlP6x5e4ijj7Jmt8w
> .
@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:NP257247.RAAOHDGQU2fuMCbZjJn3hvwVlYneMlP6x5e4ijj7Jmt8w130_head
{
this:
np:hasAssertion
dgn-np:NP257247.RAAOHDGQU2fuMCbZjJn3hvwVlYneMlP6x5e4ijj7Jmt8w130_assertion
;
np:hasProvenance
dgn-np:NP257247.RAAOHDGQU2fuMCbZjJn3hvwVlYneMlP6x5e4ijj7Jmt8w130_provenance
;
np:hasPublicationInfo
dgn-np:NP257247.RAAOHDGQU2fuMCbZjJn3hvwVlYneMlP6x5e4ijj7Jmt8w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP257247.RAAOHDGQU2fuMCbZjJn3hvwVlYneMlP6x5e4ijj7Jmt8w130_assertion
a
np:Assertion
.
dgn-np:NP257247.RAAOHDGQU2fuMCbZjJn3hvwVlYneMlP6x5e4ijj7Jmt8w130_provenance
a
np:Provenance
.
dgn-np:NP257247.RAAOHDGQU2fuMCbZjJn3hvwVlYneMlP6x5e4ijj7Jmt8w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP257247.RAAOHDGQU2fuMCbZjJn3hvwVlYneMlP6x5e4ijj7Jmt8w130_assertion
{
miriam-gene:2248
a
ncit:C16612
.
lld:C0581883
a
ncit:C7057
.
dgn-gda:DGN5843ba2b6d6b6da81b67ed2cc4081d4f
sio:SIO_000628
miriam-gene:2248
,
lld:C0581883
;
a
sio:SIO_001121
.
}
dgn-np:NP257247.RAAOHDGQU2fuMCbZjJn3hvwVlYneMlP6x5e4ijj7Jmt8w130_provenance
{
dgn-np:NP257247.RAAOHDGQU2fuMCbZjJn3hvwVlYneMlP6x5e4ijj7Jmt8w130_assertion
dcterms:description
"[Therefore, we conclude that the manifestations of recessive FGF3 mutations range from fully penetrant LAMM syndrome to deafness with residual inner ear structures and, by extension, with minimal syndromic features, an observation with implications for cochlear implantation candidacy.]. 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:21306635
;
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:NP257247.RAAOHDGQU2fuMCbZjJn3hvwVlYneMlP6x5e4ijj7Jmt8w130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:23+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" .
}