sub:provenance {
  sub:assertion dcterms:description "[Besides the common -alpha3.7 (79.1%), -alpha4.2 (1.7%), and alpha-5nt alpha alleles (4.3%), three novel nondeletional alpha-thalassemia mutations were found; the alpha2 cd19 (-G) frameshift mutation (12.2%), the alpha1 IVS1-148(A-->G) (0.9%) affecting the splice acceptor site consensus sequence and the cd14 (TGG-->TAG) (0.9%), which creates a premature stop codon in the first exon of the alpha1-gene.]. 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:14508795 ;
    prov:wasDerivedFrom dgn-void:BEFREE ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:BEFREE pav:importedOn "2017-02-19"^^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 .
}