@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP198483.RAMLLEKVZ3GeXAsPjZizbsGUUMYwvOmTjXwuPMmuPxleE
> .
@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:NP198483.RAMLLEKVZ3GeXAsPjZizbsGUUMYwvOmTjXwuPMmuPxleE130_head
{
this:
np:hasAssertion
dgn-np:NP198483.RAMLLEKVZ3GeXAsPjZizbsGUUMYwvOmTjXwuPMmuPxleE130_assertion
;
np:hasProvenance
dgn-np:NP198483.RAMLLEKVZ3GeXAsPjZizbsGUUMYwvOmTjXwuPMmuPxleE130_provenance
;
np:hasPublicationInfo
dgn-np:NP198483.RAMLLEKVZ3GeXAsPjZizbsGUUMYwvOmTjXwuPMmuPxleE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP198483.RAMLLEKVZ3GeXAsPjZizbsGUUMYwvOmTjXwuPMmuPxleE130_assertion
a
np:Assertion
.
dgn-np:NP198483.RAMLLEKVZ3GeXAsPjZizbsGUUMYwvOmTjXwuPMmuPxleE130_provenance
a
np:Provenance
.
dgn-np:NP198483.RAMLLEKVZ3GeXAsPjZizbsGUUMYwvOmTjXwuPMmuPxleE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP198483.RAMLLEKVZ3GeXAsPjZizbsGUUMYwvOmTjXwuPMmuPxleE130_assertion
{
miriam-gene:3861
a
ncit:C16612
.
lld:C0079298
a
ncit:C7057
.
dgn-gda:DGN68a6ba0ea6d12ac29210c57558d1f23a
sio:SIO_000628
miriam-gene:3861
,
lld:C0079298
;
a
sio:SIO_001121
.
}
dgn-np:NP198483.RAMLLEKVZ3GeXAsPjZizbsGUUMYwvOmTjXwuPMmuPxleE130_provenance
{
dgn-np:NP198483.RAMLLEKVZ3GeXAsPjZizbsGUUMYwvOmTjXwuPMmuPxleE130_assertion
dcterms:description
"[We report a mutation in the gene encoding keratin 14 (KRT14) that changes the predicted amino acid at position 119, at the start of the helix initiation motif, from methionine to threonine (K14 M119T) in a patient with an EBS Dowling-Meara phenotype with severe palmo-plantar hyperkeratosis.]. 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:9804355
;
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:NP198483.RAMLLEKVZ3GeXAsPjZizbsGUUMYwvOmTjXwuPMmuPxleE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:49+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" .
}