@prefix orcid: <
http://orcid.org/
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M
> .
@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 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:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_head
{
this:
np:hasAssertion
dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_assertion
;
np:hasProvenance
dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_provenance
;
np:hasPublicationInfo
dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_assertion
a
np:Assertion
.
dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_provenance
a
np:Provenance
.
dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_assertion
{
miriam-gene:2592
a
ncit:C16612
.
lld:C0268151
a
ncit:C7057
.
dgn-gda:DGNe552b5aa220887a138c8d6a3484949f6
sio:SIO_000628
miriam-gene:2592
,
lld:C0268151
;
a
sio:SIO_001122
.
}
dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_provenance
{
dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_assertion
dcterms:description
"[Our data further support the notion of molecular heterogeneity of galactosemia and suggest that galactosemia mutations and GALT polymorphisms may be useful tools in highlighting different functional domains in human GALT.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:1610789
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP2517.RAnR5lDG7QNp9wBDJ0tG-eLiuqWUPphyAZZzpr5iqj51M130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:31:59+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
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
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,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}