@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP632604.RAjW6dNW4lCbPF44PJiNlI5WG_QLBozklJcoIHVgtSjQI
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP632604.RAjW6dNW4lCbPF44PJiNlI5WG_QLBozklJcoIHVgtSjQI130_head
{
this:
np:hasAssertion
dgn-np:NP632604.RAjW6dNW4lCbPF44PJiNlI5WG_QLBozklJcoIHVgtSjQI130_assertion
;
np:hasProvenance
dgn-np:NP632604.RAjW6dNW4lCbPF44PJiNlI5WG_QLBozklJcoIHVgtSjQI130_provenance
;
np:hasPublicationInfo
dgn-np:NP632604.RAjW6dNW4lCbPF44PJiNlI5WG_QLBozklJcoIHVgtSjQI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP632604.RAjW6dNW4lCbPF44PJiNlI5WG_QLBozklJcoIHVgtSjQI130_assertion
a
np:Assertion
.
dgn-np:NP632604.RAjW6dNW4lCbPF44PJiNlI5WG_QLBozklJcoIHVgtSjQI130_provenance
a
np:Provenance
.
dgn-np:NP632604.RAjW6dNW4lCbPF44PJiNlI5WG_QLBozklJcoIHVgtSjQI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP632604.RAjW6dNW4lCbPF44PJiNlI5WG_QLBozklJcoIHVgtSjQI130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C3714552
a
ncit:C7057
.
dgn-gda:DGN3d38c6218d7f38a66fc904dec3653aa8
sio:SIO_000628
miriam-gene:5376
,
lld:C3714552
;
a
sio:SIO_001121
.
}
dgn-np:NP632604.RAjW6dNW4lCbPF44PJiNlI5WG_QLBozklJcoIHVgtSjQI130_provenance
{
dgn-np:NP632604.RAjW6dNW4lCbPF44PJiNlI5WG_QLBozklJcoIHVgtSjQI130_assertion
dcterms:description
"[Clinical features of CMT1A include progressive distal muscle atrophy and weakness, foot and hand deformities, gait abnormalities, absent reflexes, and the completely penetrant electrophysiologic phenotype of symmetric reductions in motor nerve conduction velocities (NCVs).]. 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:8655146
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP632604.RAjW6dNW4lCbPF44PJiNlI5WG_QLBozklJcoIHVgtSjQI130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:59+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}