@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP917276.RA_l-eclYA4-TIypwQwgdaKXTmvfXKwmXFbhy9Gt85d0Q
> .
@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:NP917276.RA_l-eclYA4-TIypwQwgdaKXTmvfXKwmXFbhy9Gt85d0Q130_head
{
this:
np:hasAssertion
dgn-np:NP917276.RA_l-eclYA4-TIypwQwgdaKXTmvfXKwmXFbhy9Gt85d0Q130_assertion
;
np:hasProvenance
dgn-np:NP917276.RA_l-eclYA4-TIypwQwgdaKXTmvfXKwmXFbhy9Gt85d0Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP917276.RA_l-eclYA4-TIypwQwgdaKXTmvfXKwmXFbhy9Gt85d0Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP917276.RA_l-eclYA4-TIypwQwgdaKXTmvfXKwmXFbhy9Gt85d0Q130_assertion
a
np:Assertion
.
dgn-np:NP917276.RA_l-eclYA4-TIypwQwgdaKXTmvfXKwmXFbhy9Gt85d0Q130_provenance
a
np:Provenance
.
dgn-np:NP917276.RA_l-eclYA4-TIypwQwgdaKXTmvfXKwmXFbhy9Gt85d0Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP917276.RA_l-eclYA4-TIypwQwgdaKXTmvfXKwmXFbhy9Gt85d0Q130_assertion
{
miriam-gene:55238
a
ncit:C16612
.
lld:C0268654
a
ncit:C7057
.
dgn-gda:DGNfd29ef3ec1224e7fddbe1ccf5fbabc5f
sio:SIO_000628
miriam-gene:55238
,
lld:C0268654
;
a
sio:SIO_001121
.
}
dgn-np:NP917276.RA_l-eclYA4-TIypwQwgdaKXTmvfXKwmXFbhy9Gt85d0Q130_provenance
{
dgn-np:NP917276.RA_l-eclYA4-TIypwQwgdaKXTmvfXKwmXFbhy9Gt85d0Q130_assertion
dcterms:description
"[Additional mutations were identified in the genes encoding the putative glycine transporter SLC6A18 (XT2) and the neutral amino acid transporter SLC6A19 (B0AT1) in families with either IG or HG, suggesting that mutations in the genes encoding these transporters may also contribute to these phenotypes.]. 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:19033659
;
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:NP917276.RA_l-eclYA4-TIypwQwgdaKXTmvfXKwmXFbhy9Gt85d0Q130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:59+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: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" .
}