@prefix orcid: <
http://orcid.org/
> .
@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0
> .
@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 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/v4.0.0/void/
> .
dgn-np:NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_head
{
this:
np:hasAssertion
dgn-np:NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_assertion
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np:hasProvenance
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np:hasPublicationInfo
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a
np:Nanopublication
.
dgn-np:NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_assertion
a
np:Assertion
.
dgn-np:NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_provenance
a
np:Provenance
.
dgn-np:NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_publicationInfo
a
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{
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a
ncit:C16612
.
lld:C2936332
a
ncit:C7057
.
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sio:SIO_000628
miriam-gene:6442
,
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.
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dgn-np:NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_provenance
{
dgn-np:NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_assertion
dc:description
"[We have examined the importance of primary adhalinopathies among myopathies with adhalin deficiency, and describe several additional mutations (null and missense) in the adhalin gene in 10 new families from Europe and North Africa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
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;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
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dgn-np:NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_publicationInfo
{
this:
dc:created
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xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc:subject
sio:SIO_000983
;
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,
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,
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;
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