@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP197601.RAflOXxA4C6sgHYQR8ug3dXhShkhBxgSN47KbMm4RLXmk
> .
@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:NP197601.RAflOXxA4C6sgHYQR8ug3dXhShkhBxgSN47KbMm4RLXmk130_head
{
this:
np:hasAssertion
dgn-np:NP197601.RAflOXxA4C6sgHYQR8ug3dXhShkhBxgSN47KbMm4RLXmk130_assertion
;
np:hasProvenance
dgn-np:NP197601.RAflOXxA4C6sgHYQR8ug3dXhShkhBxgSN47KbMm4RLXmk130_provenance
;
np:hasPublicationInfo
dgn-np:NP197601.RAflOXxA4C6sgHYQR8ug3dXhShkhBxgSN47KbMm4RLXmk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP197601.RAflOXxA4C6sgHYQR8ug3dXhShkhBxgSN47KbMm4RLXmk130_assertion
a
np:Assertion
.
dgn-np:NP197601.RAflOXxA4C6sgHYQR8ug3dXhShkhBxgSN47KbMm4RLXmk130_provenance
a
np:Provenance
.
dgn-np:NP197601.RAflOXxA4C6sgHYQR8ug3dXhShkhBxgSN47KbMm4RLXmk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP197601.RAflOXxA4C6sgHYQR8ug3dXhShkhBxgSN47KbMm4RLXmk130_assertion
{
miriam-gene:4534
a
ncit:C16612
.
lld:C0175709
a
ncit:C7057
.
dgn-gda:DGNd4ab0145a5d5e6f72ac5dccd71908438
sio:SIO_000628
miriam-gene:4534
,
lld:C0175709
;
a
sio:SIO_001121
.
}
dgn-np:NP197601.RAflOXxA4C6sgHYQR8ug3dXhShkhBxgSN47KbMm4RLXmk130_provenance
{
dgn-np:NP197601.RAflOXxA4C6sgHYQR8ug3dXhShkhBxgSN47KbMm4RLXmk130_assertion
dcterms:description
"[These variations in the manifestations of myotubular myopathy have not been previously described, and will need to be correlated with the increasing knowledge of the mutations in the MTM1 gene coding for myotubularin.]. 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:9631395
;
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:NP197601.RAflOXxA4C6sgHYQR8ug3dXhShkhBxgSN47KbMm4RLXmk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:48+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" .
}