@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U
> .
@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/v3.0.0/void/
> .
dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_head
{
this:
np:hasAssertion
dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_assertion
;
np:hasProvenance
dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_provenance
;
np:hasPublicationInfo
dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_assertion
a
np:Assertion
.
dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_provenance
a
np:Provenance
.
dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_assertion
{
miriam-gene:3849
a
ncit:C16612
.
lld:C0343110
a
ncit:C7057
.
dgn-gda:DGN9adc239ab7084312e3d0f94c262f0fa6
sio:SIO_000628
miriam-gene:3849
,
lld:C0343110
;
a
sio:SIO_001121
.
}
dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_provenance
{
dgn-np:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_assertion
dcterms:description
"[We have identified mutations in two families originally diagnosed with EHK and in four families diagnosed with IBS at the same codon in the highly conserved carboxy terminal of the rod domain of keratin 2e, thus revealing a mutational hot spot.]. 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:7524919
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP528372.RAWWr1coHz9sWU3D_lQ88_q4j4NWGZs1_59a2f_p9YL7U130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:42:52+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}