dgn-np:NP932649.RAl1EREE5GxahO-ofuj2WMMKthgrPEdhrYBIL4rT1D9OY130_provenance {
  dgn-np:NP932649.RAl1EREE5GxahO-ofuj2WMMKthgrPEdhrYBIL4rT1D9OY130_assertion dcterms:description "[Furthermore, five patients with NPHP1 mutations carried the AHI1 variant R830W, which was predicted to be `possibly damaging` and was found with significantly higher frequency than in healthy control subjects and in patients with NPHP1 mutations without neurologic symptoms (five of 26 versus four of 276 and three of 152 alleles; P < 0.001 and P < 0.002, respectively).]. 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:17409309 ;
    prov:wasDerivedFrom dgn-void:befree-20140225 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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 .
}