@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP727887.RAhWuleFc6eSjEpFJTgwL0ATJ5S5KEvcJxeI9CKNWi9Qs
> .
@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:NP727887.RAhWuleFc6eSjEpFJTgwL0ATJ5S5KEvcJxeI9CKNWi9Qs130_head
{
this:
np:hasAssertion
dgn-np:NP727887.RAhWuleFc6eSjEpFJTgwL0ATJ5S5KEvcJxeI9CKNWi9Qs130_assertion
;
np:hasProvenance
dgn-np:NP727887.RAhWuleFc6eSjEpFJTgwL0ATJ5S5KEvcJxeI9CKNWi9Qs130_provenance
;
np:hasPublicationInfo
dgn-np:NP727887.RAhWuleFc6eSjEpFJTgwL0ATJ5S5KEvcJxeI9CKNWi9Qs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP727887.RAhWuleFc6eSjEpFJTgwL0ATJ5S5KEvcJxeI9CKNWi9Qs130_assertion
a
np:Assertion
.
dgn-np:NP727887.RAhWuleFc6eSjEpFJTgwL0ATJ5S5KEvcJxeI9CKNWi9Qs130_provenance
a
np:Provenance
.
dgn-np:NP727887.RAhWuleFc6eSjEpFJTgwL0ATJ5S5KEvcJxeI9CKNWi9Qs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP727887.RAhWuleFc6eSjEpFJTgwL0ATJ5S5KEvcJxeI9CKNWi9Qs130_assertion
{
miriam-gene:4625
a
ncit:C16612
.
lld:C0018799
a
ncit:C7057
.
dgn-gda:DGNdeca87b8248e612a19a7df35fdda6549
sio:SIO_000628
miriam-gene:4625
,
lld:C0018799
;
a
sio:SIO_001121
.
}
dgn-np:NP727887.RAhWuleFc6eSjEpFJTgwL0ATJ5S5KEvcJxeI9CKNWi9Qs130_provenance
{
dgn-np:NP727887.RAhWuleFc6eSjEpFJTgwL0ATJ5S5KEvcJxeI9CKNWi9Qs130_assertion
dcterms:description
"[In contrast, the gene with the nonsense mutation would encode for a cardiac beta-MHC protein of only 53 amino acid residues, which may be too short to be incorporated into the thick filament assembly of cardiac myosin chains and showed no dominant phenotype of heart disease.]. 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:7796500
;
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:NP727887.RAhWuleFc6eSjEpFJTgwL0ATJ5S5KEvcJxeI9CKNWi9Qs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:22+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" .
}