@prefix orcid: .
@prefix dc: .
@prefix this: .
@prefix rdfs: .
@prefix xsd: .
@prefix sio: .
@prefix ncit: .
@prefix lld: .
@prefix miriam-gene: .
@prefix miriam-pubmed: .
@prefix eco: .
@prefix wi: .
@prefix prov: .
@prefix pav: .
@prefix prv: .
@prefix np: .
@prefix dgn-np: .
@prefix dgn-gda: .
@prefix dgn-void: .
dgn-np:NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_head {
this: np:hasAssertion dgn-np:NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_assertion;
np:hasProvenance dgn-np:NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_provenance;
np:hasPublicationInfo dgn-np:NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_publicationInfo;
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 np:PublicationInfo .
}
dgn-np:NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_assertion {
miriam-gene:6442 a ncit:C16612 .
lld:C2936332 a ncit:C7057 .
dgn-gda:DGNae4999fe40debbd627f12241d81546ce sio:SIO_000628 miriam-gene:6442, lld:C2936332;
a sio:SIO_001122 .
}
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;
sio:SIO_000772 miriam-pubmed:7663524;
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 .
}
dgn-np:NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_publicationInfo {
this: dc:created "2016-05-13T12:41:53+02:00"^^xsd:dateTime;
dc:rights ;
dc:rightsHolder dgn-void:IBIGroup;
dc:subject sio:SIO_000983;
prv:usedData dgn-void:disgenetv3.0rdf;
pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
pav:createdBy orcid:0000-0003-0169-8159;
pav:version "v4.0.0.0" .
dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}