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http://rdf.disgenet.org/nanopublications.trig#NP688121.RA3TdnjB48z4ZCyuwuHM08nhXQBKxuSNGTC1Fe8gyWx6o
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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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#
> .
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http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
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{
this:
np:hasAssertion
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np:hasProvenance
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a
np:Nanopublication
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dgn-np:NP688121.RA3TdnjB48z4ZCyuwuHM08nhXQBKxuSNGTC1Fe8gyWx6o130_assertion
a
np:Assertion
.
dgn-np:NP688121.RA3TdnjB48z4ZCyuwuHM08nhXQBKxuSNGTC1Fe8gyWx6o130_provenance
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np:Provenance
.
dgn-np:NP688121.RA3TdnjB48z4ZCyuwuHM08nhXQBKxuSNGTC1Fe8gyWx6o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP688121.RA3TdnjB48z4ZCyuwuHM08nhXQBKxuSNGTC1Fe8gyWx6o130_assertion
{
miriam-gene:7273
a
ncit:C16612
.
lld:C0175709
a
ncit:C7057
.
dgn-gda:DGNbce1a09f209a3fa50aea32e5e099d5b7
sio:SIO_000628
miriam-gene:7273
,
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.
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dgn-np:NP688121.RA3TdnjB48z4ZCyuwuHM08nhXQBKxuSNGTC1Fe8gyWx6o130_provenance
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dgn-np:NP688121.RA3TdnjB48z4ZCyuwuHM08nhXQBKxuSNGTC1Fe8gyWx6o130_assertion
dcterms:description
"[This study expands the phenotypic spectrum associated with TTN mutations and indicates that TTN mutation analysis should be considered in cases of possible CNM without mutations in the classic CNM genes.]. 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:23975875
;
prov:wasDerivedFrom
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;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
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xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
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rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
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dgn-np:NP688121.RA3TdnjB48z4ZCyuwuHM08nhXQBKxuSNGTC1Fe8gyWx6o130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
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> , <
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> , <
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> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
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pav:version
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