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- source_evidence_literature type ECO_0000212 NP801712.RAZl1VHJegeojZo621UOETlEkkk1BQLlQJzdzHDCsidWA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP801712.RAZl1VHJegeojZo621UOETlEkkk1BQLlQJzdzHDCsidWA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP801712.RAZl1VHJegeojZo621UOETlEkkk1BQLlQJzdzHDCsidWA130_provenance.
- NP801712.RAZl1VHJegeojZo621UOETlEkkk1BQLlQJzdzHDCsidWA130_assertion description "[A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP801712.RAZl1VHJegeojZo621UOETlEkkk1BQLlQJzdzHDCsidWA130_provenance.
- NP801712.RAZl1VHJegeojZo621UOETlEkkk1BQLlQJzdzHDCsidWA130_assertion evidence source_evidence_literature NP801712.RAZl1VHJegeojZo621UOETlEkkk1BQLlQJzdzHDCsidWA130_provenance.
- NP801712.RAZl1VHJegeojZo621UOETlEkkk1BQLlQJzdzHDCsidWA130_assertion SIO_000772 15471865 NP801712.RAZl1VHJegeojZo621UOETlEkkk1BQLlQJzdzHDCsidWA130_provenance.
- NP801712.RAZl1VHJegeojZo621UOETlEkkk1BQLlQJzdzHDCsidWA130_assertion wasDerivedFrom befree-20150227 NP801712.RAZl1VHJegeojZo621UOETlEkkk1BQLlQJzdzHDCsidWA130_provenance.
- NP801712.RAZl1VHJegeojZo621UOETlEkkk1BQLlQJzdzHDCsidWA130_assertion wasGeneratedBy ECO_0000203 NP801712.RAZl1VHJegeojZo621UOETlEkkk1BQLlQJzdzHDCsidWA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP801712.RAZl1VHJegeojZo621UOETlEkkk1BQLlQJzdzHDCsidWA130_provenance.