Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP801721.RAThyknOW7WR_W3ZBLyRFgxQk-Wh2IeIb-Dby1mpEwmBM130_assertion> ?p ?o ?g. }
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- NP801721.RAThyknOW7WR_W3ZBLyRFgxQk-Wh2IeIb-Dby1mpEwmBM130_assertion type Assertion NP801721.RAThyknOW7WR_W3ZBLyRFgxQk-Wh2IeIb-Dby1mpEwmBM130_head.
- NP801721.RAThyknOW7WR_W3ZBLyRFgxQk-Wh2IeIb-Dby1mpEwmBM130_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." NP801721.RAThyknOW7WR_W3ZBLyRFgxQk-Wh2IeIb-Dby1mpEwmBM130_provenance.
- NP801721.RAThyknOW7WR_W3ZBLyRFgxQk-Wh2IeIb-Dby1mpEwmBM130_assertion evidence source_evidence_literature NP801721.RAThyknOW7WR_W3ZBLyRFgxQk-Wh2IeIb-Dby1mpEwmBM130_provenance.
- NP801721.RAThyknOW7WR_W3ZBLyRFgxQk-Wh2IeIb-Dby1mpEwmBM130_assertion SIO_000772 15471865 NP801721.RAThyknOW7WR_W3ZBLyRFgxQk-Wh2IeIb-Dby1mpEwmBM130_provenance.
- NP801721.RAThyknOW7WR_W3ZBLyRFgxQk-Wh2IeIb-Dby1mpEwmBM130_assertion wasDerivedFrom befree-20150227 NP801721.RAThyknOW7WR_W3ZBLyRFgxQk-Wh2IeIb-Dby1mpEwmBM130_provenance.
- NP801721.RAThyknOW7WR_W3ZBLyRFgxQk-Wh2IeIb-Dby1mpEwmBM130_assertion wasGeneratedBy ECO_0000203 NP801721.RAThyknOW7WR_W3ZBLyRFgxQk-Wh2IeIb-Dby1mpEwmBM130_provenance.