Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_assertion> ?p ?o ?g. }
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- NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_assertion type Assertion NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_head.
- NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_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." NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_provenance.
- NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_assertion evidence source_evidence_literature NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_provenance.
- NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_assertion SIO_000772 15471865 NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_provenance.
- NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_assertion wasDerivedFrom befree-2016 NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_provenance.
- NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_assertion wasGeneratedBy ECO_0000203 NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_provenance.