@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP455836.RA-YxGIxkTYEgQKcto2JTXjNZGvAlvHS8n0IiJJvJ9FEs
> .
@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:NP455836.RA-YxGIxkTYEgQKcto2JTXjNZGvAlvHS8n0IiJJvJ9FEs130_head
{
this:
np:hasAssertion
dgn-np:NP455836.RA-YxGIxkTYEgQKcto2JTXjNZGvAlvHS8n0IiJJvJ9FEs130_assertion
;
np:hasProvenance
dgn-np:NP455836.RA-YxGIxkTYEgQKcto2JTXjNZGvAlvHS8n0IiJJvJ9FEs130_provenance
;
np:hasPublicationInfo
dgn-np:NP455836.RA-YxGIxkTYEgQKcto2JTXjNZGvAlvHS8n0IiJJvJ9FEs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP455836.RA-YxGIxkTYEgQKcto2JTXjNZGvAlvHS8n0IiJJvJ9FEs130_assertion
a
np:Assertion
.
dgn-np:NP455836.RA-YxGIxkTYEgQKcto2JTXjNZGvAlvHS8n0IiJJvJ9FEs130_provenance
a
np:Provenance
.
dgn-np:NP455836.RA-YxGIxkTYEgQKcto2JTXjNZGvAlvHS8n0IiJJvJ9FEs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP455836.RA-YxGIxkTYEgQKcto2JTXjNZGvAlvHS8n0IiJJvJ9FEs130_assertion
{
miriam-gene:5167
a
ncit:C16612
.
lld:C0265334
a
ncit:C7057
.
dgn-gda:DGN21e3646d892a4955cf96a9225a45fcb6
sio:SIO_000628
miriam-gene:5167
,
lld:C0265334
;
a
sio:SIO_001121
.
}
dgn-np:NP455836.RA-YxGIxkTYEgQKcto2JTXjNZGvAlvHS8n0IiJJvJ9FEs130_provenance
{
dgn-np:NP455836.RA-YxGIxkTYEgQKcto2JTXjNZGvAlvHS8n0IiJJvJ9FEs130_assertion
dcterms:description
"[This report is the first case of pachyonychia congenita with laryngeal obstruction in which the gene mutation has been established (a deletional mutation in K6a), confirming that laryngeal obstruction can occur in PC-1.]. 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:21554383
;
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:NP455836.RA-YxGIxkTYEgQKcto2JTXjNZGvAlvHS8n0IiJJvJ9FEs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:31+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" .
}