@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP299040.RA_f_7a7Bmu85yAf3sOQvytyvPC1f5p8NovaP6DwevtY8
> .
@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 dcterms: <
http://purl.org/dc/terms/
> .
@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:NP299040.RA_f_7a7Bmu85yAf3sOQvytyvPC1f5p8NovaP6DwevtY8130_head
{
this:
np:hasAssertion
dgn-np:NP299040.RA_f_7a7Bmu85yAf3sOQvytyvPC1f5p8NovaP6DwevtY8130_assertion
;
np:hasProvenance
dgn-np:NP299040.RA_f_7a7Bmu85yAf3sOQvytyvPC1f5p8NovaP6DwevtY8130_provenance
;
np:hasPublicationInfo
dgn-np:NP299040.RA_f_7a7Bmu85yAf3sOQvytyvPC1f5p8NovaP6DwevtY8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP299040.RA_f_7a7Bmu85yAf3sOQvytyvPC1f5p8NovaP6DwevtY8130_assertion
a
np:Assertion
.
dgn-np:NP299040.RA_f_7a7Bmu85yAf3sOQvytyvPC1f5p8NovaP6DwevtY8130_provenance
a
np:Provenance
.
dgn-np:NP299040.RA_f_7a7Bmu85yAf3sOQvytyvPC1f5p8NovaP6DwevtY8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP299040.RA_f_7a7Bmu85yAf3sOQvytyvPC1f5p8NovaP6DwevtY8130_assertion
{
miriam-gene:2592
a
ncit:C16612
.
lld:C0016952
a
ncit:C7057
.
dgn-gda:DGNca863e23e6de65156d96f8cf06bcea9f
sio:SIO_000628
miriam-gene:2592
,
lld:C0016952
;
a
sio:SIO_001121
.
}
dgn-np:NP299040.RA_f_7a7Bmu85yAf3sOQvytyvPC1f5p8NovaP6DwevtY8130_provenance
{
dgn-np:NP299040.RA_f_7a7Bmu85yAf3sOQvytyvPC1f5p8NovaP6DwevtY8130_assertion
dcterms:description
"[Our limited data set on galactosemia mutations in Japanese suggests that the N314D GALT mutation encoding the Duarte variant arose before Asian and Caucasian people diverged and that classic galactosemia mutations arose and/or accumulated after the divergence of Asian and 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:7550229
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP299040.RA_f_7a7Bmu85yAf3sOQvytyvPC1f5p8NovaP6DwevtY8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:50+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
<
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}