@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP943219.RABIUeQz1eVewCobZdSmJe9_Qi2CZ1gDkEg4UCwgjxkEU
> .
@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:NP943219.RABIUeQz1eVewCobZdSmJe9_Qi2CZ1gDkEg4UCwgjxkEU130_head
{
this:
np:hasAssertion
dgn-np:NP943219.RABIUeQz1eVewCobZdSmJe9_Qi2CZ1gDkEg4UCwgjxkEU130_assertion
;
np:hasProvenance
dgn-np:NP943219.RABIUeQz1eVewCobZdSmJe9_Qi2CZ1gDkEg4UCwgjxkEU130_provenance
;
np:hasPublicationInfo
dgn-np:NP943219.RABIUeQz1eVewCobZdSmJe9_Qi2CZ1gDkEg4UCwgjxkEU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP943219.RABIUeQz1eVewCobZdSmJe9_Qi2CZ1gDkEg4UCwgjxkEU130_assertion
a
np:Assertion
.
dgn-np:NP943219.RABIUeQz1eVewCobZdSmJe9_Qi2CZ1gDkEg4UCwgjxkEU130_provenance
a
np:Provenance
.
dgn-np:NP943219.RABIUeQz1eVewCobZdSmJe9_Qi2CZ1gDkEg4UCwgjxkEU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP943219.RABIUeQz1eVewCobZdSmJe9_Qi2CZ1gDkEg4UCwgjxkEU130_assertion
{
miriam-gene:6513
a
ncit:C16612
.
lld:C1847501
a
ncit:C7057
.
dgn-gda:DGN6ef54beef930a3edb76c80891abaabd6
sio:SIO_000628
miriam-gene:6513
,
lld:C1847501
;
a
sio:SIO_001122
.
}
dgn-np:NP943219.RABIUeQz1eVewCobZdSmJe9_Qi2CZ1gDkEg4UCwgjxkEU130_provenance
{
dgn-np:NP943219.RABIUeQz1eVewCobZdSmJe9_Qi2CZ1gDkEg4UCwgjxkEU130_assertion
dcterms:description
"[The corresponding mutations in GLUT1 (R153C and R333W) are known to cause GLUT1 deficiency syndrome because arginine residues in this motif are reportedly important as the determinants of the membrane topology of human GLUT1.]. 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:22132964
;
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:NP943219.RABIUeQz1eVewCobZdSmJe9_Qi2CZ1gDkEg4UCwgjxkEU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:52+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}