dgn-np:NP799516.RAZHIQibcczt5EGeJAiXqOSXgj3OepzE38SANAOapUGNs130_provenance {
  dgn-np:NP799516.RAZHIQibcczt5EGeJAiXqOSXgj3OepzE38SANAOapUGNs130_assertion dcterms:description "[The conditions studied were rigid spine syndrome (SEPN1 defects), Bethlem myopathy, and Ullrich congenital muscular dystrophy, allelic disorders caused by Col6A1, Col6A2, and Col6A3 mutations, the autosomal dominant form of Emery-Dreifuss muscular dystrophy (LMNA defects) and calpain-deficient limb girdle muscular dystrophy (CAPN3 defects).]. 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:20225280 ;
    prov:wasDerivedFrom dgn-void:befree-2016 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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 .
}