Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP463497.RAUvDJN7s7VVWYqpd8hReP9NuUv-AQwse_19BuvZqaIVs130_assertion> ?p ?o ?g. }
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- NP463497.RAUvDJN7s7VVWYqpd8hReP9NuUv-AQwse_19BuvZqaIVs130_assertion type Assertion NP463497.RAUvDJN7s7VVWYqpd8hReP9NuUv-AQwse_19BuvZqaIVs130_head.
- NP463497.RAUvDJN7s7VVWYqpd8hReP9NuUv-AQwse_19BuvZqaIVs130_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." NP463497.RAUvDJN7s7VVWYqpd8hReP9NuUv-AQwse_19BuvZqaIVs130_provenance.
- NP463497.RAUvDJN7s7VVWYqpd8hReP9NuUv-AQwse_19BuvZqaIVs130_assertion evidence source_evidence_literature NP463497.RAUvDJN7s7VVWYqpd8hReP9NuUv-AQwse_19BuvZqaIVs130_provenance.
- NP463497.RAUvDJN7s7VVWYqpd8hReP9NuUv-AQwse_19BuvZqaIVs130_assertion SIO_000772 15471865 NP463497.RAUvDJN7s7VVWYqpd8hReP9NuUv-AQwse_19BuvZqaIVs130_provenance.
- NP463497.RAUvDJN7s7VVWYqpd8hReP9NuUv-AQwse_19BuvZqaIVs130_assertion wasDerivedFrom befree-2016 NP463497.RAUvDJN7s7VVWYqpd8hReP9NuUv-AQwse_19BuvZqaIVs130_provenance.
- NP463497.RAUvDJN7s7VVWYqpd8hReP9NuUv-AQwse_19BuvZqaIVs130_assertion wasGeneratedBy ECO_0000203 NP463497.RAUvDJN7s7VVWYqpd8hReP9NuUv-AQwse_19BuvZqaIVs130_provenance.