@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0
> .
@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:NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_head
{
this:
np:hasAssertion
dgn-np:NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_assertion
;
np:hasProvenance
dgn-np:NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_provenance
;
np:hasPublicationInfo
dgn-np:NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_assertion
a
np:Assertion
.
dgn-np:NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_provenance
a
np:Provenance
.
dgn-np:NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_assertion
{
miriam-gene:7273
a
ncit:C16612
.
lld:C1838244
a
ncit:C7057
.
dgn-gda:DGN230973c4c048900e9a2cbfef874371f4
sio:SIO_000628
miriam-gene:7273
,
lld:C1838244
;
a
sio:SIO_001121
.
}
dgn-np:NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_provenance
{
dgn-np:NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_assertion
dcterms:description
"[Then, since the introduction of a proline in the last domain of titin was previously known to cause TMD in French families, we can conclude that this missense mutation is the obvious pathogenetic mutation in the affected patients.]. 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:19911250
;
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:NP767418.RAsADfTnMcHf8ud-cid1TibGdR1vpT1iRhuyKMTJqUdZ0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:44+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" .
}