@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP688484.RAajT3y_kbauRB87GdH9UfOH6iFX4R0Qmskm1as6ejo8E
> .
@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:NP688484.RAajT3y_kbauRB87GdH9UfOH6iFX4R0Qmskm1as6ejo8E130_head
{
this:
np:hasAssertion
dgn-np:NP688484.RAajT3y_kbauRB87GdH9UfOH6iFX4R0Qmskm1as6ejo8E130_assertion
;
np:hasProvenance
dgn-np:NP688484.RAajT3y_kbauRB87GdH9UfOH6iFX4R0Qmskm1as6ejo8E130_provenance
;
np:hasPublicationInfo
dgn-np:NP688484.RAajT3y_kbauRB87GdH9UfOH6iFX4R0Qmskm1as6ejo8E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP688484.RAajT3y_kbauRB87GdH9UfOH6iFX4R0Qmskm1as6ejo8E130_assertion
a
np:Assertion
.
dgn-np:NP688484.RAajT3y_kbauRB87GdH9UfOH6iFX4R0Qmskm1as6ejo8E130_provenance
a
np:Provenance
.
dgn-np:NP688484.RAajT3y_kbauRB87GdH9UfOH6iFX4R0Qmskm1as6ejo8E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP688484.RAajT3y_kbauRB87GdH9UfOH6iFX4R0Qmskm1as6ejo8E130_assertion
{
miriam-gene:2744
a
ncit:C16612
.
lld:C1833921
a
ncit:C7057
.
dgn-gda:DGNc9c639a7b2a5b00b0c02d2b1c302d927
sio:SIO_000628
miriam-gene:2744
,
lld:C1833921
;
a
sio:SIO_001121
.
}
dgn-np:NP688484.RAajT3y_kbauRB87GdH9UfOH6iFX4R0Qmskm1as6ejo8E130_provenance
{
dgn-np:NP688484.RAajT3y_kbauRB87GdH9UfOH6iFX4R0Qmskm1as6ejo8E130_assertion
dcterms:description
"[Germline mutations of codon 768, GAG to GAC (Glu to Asp), were detected in one FMTC, in one patient with sporadic MTC, and in one of the patients without familial information.]. 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:9621513
;
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:NP688484.RAajT3y_kbauRB87GdH9UfOH6iFX4R0Qmskm1as6ejo8E130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:58+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" .
}