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- source_evidence_literature type ECO_0000212 NP463496.RA8NefHdyCI1X7PnN4364nXJ0oMF-ie_cuxMgVrBwxAaA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP463496.RA8NefHdyCI1X7PnN4364nXJ0oMF-ie_cuxMgVrBwxAaA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP463496.RA8NefHdyCI1X7PnN4364nXJ0oMF-ie_cuxMgVrBwxAaA130_provenance.
- NP463496.RA8NefHdyCI1X7PnN4364nXJ0oMF-ie_cuxMgVrBwxAaA130_assertion 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." NP463496.RA8NefHdyCI1X7PnN4364nXJ0oMF-ie_cuxMgVrBwxAaA130_provenance.
- NP463496.RA8NefHdyCI1X7PnN4364nXJ0oMF-ie_cuxMgVrBwxAaA130_assertion evidence source_evidence_literature NP463496.RA8NefHdyCI1X7PnN4364nXJ0oMF-ie_cuxMgVrBwxAaA130_provenance.
- NP463496.RA8NefHdyCI1X7PnN4364nXJ0oMF-ie_cuxMgVrBwxAaA130_assertion SIO_000772 15471865 NP463496.RA8NefHdyCI1X7PnN4364nXJ0oMF-ie_cuxMgVrBwxAaA130_provenance.
- NP463496.RA8NefHdyCI1X7PnN4364nXJ0oMF-ie_cuxMgVrBwxAaA130_assertion wasDerivedFrom befree-2016 NP463496.RA8NefHdyCI1X7PnN4364nXJ0oMF-ie_cuxMgVrBwxAaA130_provenance.
- NP463496.RA8NefHdyCI1X7PnN4364nXJ0oMF-ie_cuxMgVrBwxAaA130_assertion wasGeneratedBy ECO_0000203 NP463496.RA8NefHdyCI1X7PnN4364nXJ0oMF-ie_cuxMgVrBwxAaA130_provenance.
- befree-2016 importedOn "2016-02-19" NP463496.RA8NefHdyCI1X7PnN4364nXJ0oMF-ie_cuxMgVrBwxAaA130_provenance.