dgn-np:NP2903.RAfrQQSNoORxhnD9_46MTVu_X38Ov2CXDSUV7K6vIpywU130_provenance {
  dgn-np:NP2903.RAfrQQSNoORxhnD9_46MTVu_X38Ov2CXDSUV7K6vIpywU130_assertion dc:description "[Mutation analysis of the OA1 gene demonstrated seven presumed pathogenic mutations in the nine families with XLOA: five single nucleotide substitutions predicting a change of conserved amino acids (G35D, L39R, D78V, W133R and E233K) when compared with the mouse OA1 homologue, one deletion leading to the skipping of exon 2, and one single nucleotide substitution expected to affect the 5' splice site of intron 2 were found.]. 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:9887374 ;
    prov:wasDerivedFrom dgn-void:uniprot-20130724 ;
    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-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}