@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP845763.RAreWJ7ooJwj0URiDWkMrogjxoBcEje3U9XrqK61TS_24
> .
@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:NP845763.RAreWJ7ooJwj0URiDWkMrogjxoBcEje3U9XrqK61TS_24130_head
{
this:
np:hasAssertion
dgn-np:NP845763.RAreWJ7ooJwj0URiDWkMrogjxoBcEje3U9XrqK61TS_24130_assertion
;
np:hasProvenance
dgn-np:NP845763.RAreWJ7ooJwj0URiDWkMrogjxoBcEje3U9XrqK61TS_24130_provenance
;
np:hasPublicationInfo
dgn-np:NP845763.RAreWJ7ooJwj0URiDWkMrogjxoBcEje3U9XrqK61TS_24130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP845763.RAreWJ7ooJwj0URiDWkMrogjxoBcEje3U9XrqK61TS_24130_assertion
a
np:Assertion
.
dgn-np:NP845763.RAreWJ7ooJwj0URiDWkMrogjxoBcEje3U9XrqK61TS_24130_provenance
a
np:Provenance
.
dgn-np:NP845763.RAreWJ7ooJwj0URiDWkMrogjxoBcEje3U9XrqK61TS_24130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP845763.RAreWJ7ooJwj0URiDWkMrogjxoBcEje3U9XrqK61TS_24130_assertion
{
miriam-gene:3339
a
ncit:C16612
.
lld:C0751039
a
ncit:C7057
.
dgn-gda:DGN8e4164f2cbd02da9c31d9270d0553681
sio:SIO_000628
miriam-gene:3339
,
lld:C0751039
;
a
sio:SIO_001121
.
}
dgn-np:NP845763.RAreWJ7ooJwj0URiDWkMrogjxoBcEje3U9XrqK61TS_24130_provenance
{
dgn-np:NP845763.RAreWJ7ooJwj0URiDWkMrogjxoBcEje3U9XrqK61TS_24130_assertion
dcterms:description
"[Sequence analysis of the cDNA coding for PLC-delta1 obtained from fibroblasts revealed that one conversion of guanine to adenine (A) was present at nucleotide position 864 in one CSA patient, resulting in the amino acid replacement of arginine 257 by histidine (R257H).]. 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:11980680
;
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:NP845763.RAreWJ7ooJwj0URiDWkMrogjxoBcEje3U9XrqK61TS_24130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:37+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" .
}