@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP247742.RA1JrvASjBfAJrX50Pl5EQ7pX9DrgeKrMRTUXOcplXReM
> .
@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:NP247742.RA1JrvASjBfAJrX50Pl5EQ7pX9DrgeKrMRTUXOcplXReM130_head
{
this:
np:hasAssertion
dgn-np:NP247742.RA1JrvASjBfAJrX50Pl5EQ7pX9DrgeKrMRTUXOcplXReM130_assertion
;
np:hasProvenance
dgn-np:NP247742.RA1JrvASjBfAJrX50Pl5EQ7pX9DrgeKrMRTUXOcplXReM130_provenance
;
np:hasPublicationInfo
dgn-np:NP247742.RA1JrvASjBfAJrX50Pl5EQ7pX9DrgeKrMRTUXOcplXReM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP247742.RA1JrvASjBfAJrX50Pl5EQ7pX9DrgeKrMRTUXOcplXReM130_assertion
a
np:Assertion
.
dgn-np:NP247742.RA1JrvASjBfAJrX50Pl5EQ7pX9DrgeKrMRTUXOcplXReM130_provenance
a
np:Provenance
.
dgn-np:NP247742.RA1JrvASjBfAJrX50Pl5EQ7pX9DrgeKrMRTUXOcplXReM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP247742.RA1JrvASjBfAJrX50Pl5EQ7pX9DrgeKrMRTUXOcplXReM130_assertion
{
miriam-gene:759
a
ncit:C16612
.
lld:C0028754
a
ncit:C7057
.
dgn-gda:DGN309a3e94c85d55732de5ec6120db464f
sio:SIO_000628
miriam-gene:759
,
lld:C0028754
;
a
sio:SIO_001121
.
}
dgn-np:NP247742.RA1JrvASjBfAJrX50Pl5EQ7pX9DrgeKrMRTUXOcplXReM130_provenance
{
dgn-np:NP247742.RA1JrvASjBfAJrX50Pl5EQ7pX9DrgeKrMRTUXOcplXReM130_assertion
dcterms:description
"[Of interest, five of these novel mutations, one of the previously described frequent variants (N221D), and the mutation found in an obese mouse model (N222D), affect residues at or near the structural calcium binding site Ca-1.]. 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:22210313
;
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:NP247742.RA1JrvASjBfAJrX50Pl5EQ7pX9DrgeKrMRTUXOcplXReM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:18+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" .
}