dgn-np:NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_provenance {
dgn-np:NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion dcterms:description "[Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S. H., Kanai, Y., Kunimi, M., Tsukamoto, K., Satoh, H., Shimadzu, M., Tozawa, F., Mori, T., Shiobara, M., Seki, G., and Endou, H. (1999) Nat.]. 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:15471865 ;
prov:wasDerivedFrom dgn-void:befree-20150227 ;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^
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 .
}