@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk
> .
@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:NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_head
{
this:
np:hasAssertion
dgn-np:NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_assertion
;
np:hasProvenance
dgn-np:NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_provenance
;
np:hasPublicationInfo
dgn-np:NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_assertion
a
np:Assertion
.
dgn-np:NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_provenance
a
np:Provenance
.
dgn-np:NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_assertion
{
miriam-gene:213
a
ncit:C16612
.
lld:C0342185
a
ncit:C7057
.
dgn-gda:DGNa944ac895d5f9f7e3342a652570a70ff
sio:SIO_000628
miriam-gene:213
,
lld:C0342185
;
a
sio:SIO_001121
.
}
dgn-np:NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_provenance
{
dgn-np:NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_assertion
dcterms:description
"[The diagnosis of familial dysalbuminaemic hyperthyroxinaemia was confirmed by the detection of a guanine to adenine missense mutation in the second nucleotide of codon 218 of the gene encoding human serum albumin, showing that the mutation in this family is the same as that previously found in Caucasian populations.]. 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:14660816
;
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:NP423610.RA4Kyo9oDsXz_lGcIJVACnOLeixnPsVN58k-_r3ipxLGk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:57+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" .
}