@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP426671.RAk0QAqX7ONe-QSKq1HO7uS3f5sgohSRNmwyxW0laN2zo
> .
@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:NP426671.RAk0QAqX7ONe-QSKq1HO7uS3f5sgohSRNmwyxW0laN2zo130_head
{
this:
np:hasAssertion
dgn-np:NP426671.RAk0QAqX7ONe-QSKq1HO7uS3f5sgohSRNmwyxW0laN2zo130_assertion
;
np:hasProvenance
dgn-np:NP426671.RAk0QAqX7ONe-QSKq1HO7uS3f5sgohSRNmwyxW0laN2zo130_provenance
;
np:hasPublicationInfo
dgn-np:NP426671.RAk0QAqX7ONe-QSKq1HO7uS3f5sgohSRNmwyxW0laN2zo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP426671.RAk0QAqX7ONe-QSKq1HO7uS3f5sgohSRNmwyxW0laN2zo130_assertion
a
np:Assertion
.
dgn-np:NP426671.RAk0QAqX7ONe-QSKq1HO7uS3f5sgohSRNmwyxW0laN2zo130_provenance
a
np:Provenance
.
dgn-np:NP426671.RAk0QAqX7ONe-QSKq1HO7uS3f5sgohSRNmwyxW0laN2zo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP426671.RAk0QAqX7ONe-QSKq1HO7uS3f5sgohSRNmwyxW0laN2zo130_assertion
{
miriam-gene:2707
a
ncit:C16612
.
lld:C0870082
a
ncit:C7057
.
dgn-gda:DGN3ec346ea4d7fcc4d795ed809e99242c2
sio:SIO_000628
miriam-gene:2707
,
lld:C0870082
;
a
sio:SIO_001122
.
}
dgn-np:NP426671.RAk0QAqX7ONe-QSKq1HO7uS3f5sgohSRNmwyxW0laN2zo130_provenance
{
dgn-np:NP426671.RAk0QAqX7ONe-QSKq1HO7uS3f5sgohSRNmwyxW0laN2zo130_assertion
dcterms:description
"[Affected individuals of two unrelated families harbored point mutations leading to amino acid substitution F137L, which was also reported in GJB3, yet the extent and severity of hyperkeratosis was milder compared to the corresponding mutation in GJB3.]. 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:12648223
;
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:NP426671.RAk0QAqX7ONe-QSKq1HO7uS3f5sgohSRNmwyxW0laN2zo130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:48+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" .
}