@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP251970.RAU3HNza2h-uPvhBmUay-p1w2XI2HJWq6Upq7cHrTYdb0
> .
@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:NP251970.RAU3HNza2h-uPvhBmUay-p1w2XI2HJWq6Upq7cHrTYdb0130_head
{
this:
np:hasAssertion
dgn-np:NP251970.RAU3HNza2h-uPvhBmUay-p1w2XI2HJWq6Upq7cHrTYdb0130_assertion
;
np:hasProvenance
dgn-np:NP251970.RAU3HNza2h-uPvhBmUay-p1w2XI2HJWq6Upq7cHrTYdb0130_provenance
;
np:hasPublicationInfo
dgn-np:NP251970.RAU3HNza2h-uPvhBmUay-p1w2XI2HJWq6Upq7cHrTYdb0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP251970.RAU3HNza2h-uPvhBmUay-p1w2XI2HJWq6Upq7cHrTYdb0130_assertion
a
np:Assertion
.
dgn-np:NP251970.RAU3HNza2h-uPvhBmUay-p1w2XI2HJWq6Upq7cHrTYdb0130_provenance
a
np:Provenance
.
dgn-np:NP251970.RAU3HNza2h-uPvhBmUay-p1w2XI2HJWq6Upq7cHrTYdb0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP251970.RAU3HNza2h-uPvhBmUay-p1w2XI2HJWq6Upq7cHrTYdb0130_assertion
{
miriam-gene:3857
a
ncit:C16612
.
lld:C1721006
a
ncit:C7057
.
dgn-gda:DGNf19289a2cf22b629080b0880ff4b8006
sio:SIO_000628
miriam-gene:3857
,
lld:C1721006
;
a
sio:SIO_001121
.
}
dgn-np:NP251970.RAU3HNza2h-uPvhBmUay-p1w2XI2HJWq6Upq7cHrTYdb0130_provenance
{
dgn-np:NP251970.RAU3HNza2h-uPvhBmUay-p1w2XI2HJWq6Upq7cHrTYdb0130_assertion
dcterms:description
"[The phenotype of this case is similar to EPPK caused by 1A domain mutations, demonstrating that mutations in either of the helix boundary motif sequences of K9 are detrimental to keratin function and keratinocyte structure.]. 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:10233272
;
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:NP251970.RAU3HNza2h-uPvhBmUay-p1w2XI2HJWq6Upq7cHrTYdb0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:40+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" .
}