@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM
> .
@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:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_head
{
this:
np:hasAssertion
dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_assertion
;
np:hasProvenance
dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_provenance
;
np:hasPublicationInfo
dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_assertion
a
np:Assertion
.
dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_provenance
a
np:Provenance
.
dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_assertion
{
miriam-gene:79083
a
ncit:C16612
.
lld:C0162835
a
ncit:C7057
.
dgn-gda:DGNe30fbc3bfe4a92547dfda3be8d6dea6b
sio:SIO_000628
miriam-gene:79083
,
lld:C0162835
;
a
sio:SIO_001121
.
}
dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_provenance
{
dgn-np:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_assertion
dcterms:description
"[We herein present genetic and functional evidence that a third form of GS (GS3), whose expression is restricted to the characteristic hypopigmentation of GS, results from mutation in the gene that encodes melanophilin (Mlph), the ortholog of the gene mutated in leaden mice.]. 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:12897212
;
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:NP406791.RAeHY0iniSvWoymF-lbdBbXaLgzv9Q3HpyA8SM8N98KXM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:02+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" .
}