dgn-np:NP46660.RAmmqdrZDlxvDGcDC4Ex58qqgRxqOKnB3rvXQwwSp2NdU130_provenance {
  dgn-np:NP46660.RAmmqdrZDlxvDGcDC4Ex58qqgRxqOKnB3rvXQwwSp2NdU130_assertion dct:description "[ Pathogenic COL4A4 mutations were demonstrated in three of the nine (33%) families in whom hematuria segregated with the COL4A3/COL4A4 locus. Two stop codons (R1377X and 2788/91delG) and a glycine substitution (G960R) resulted in hematuria in all 16 members who were tested from these three families. The S969X mutation described here in TBMD for the first time, as well as the R1377X mutation, also occur in autosomal recessive Alport syndrome.]. 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:12631110 ;
    prov:wasDerivedFrom dgn-void:gad-20130706 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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 .
}