Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_provenance.
- 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.
- befree-2016 importedOn "2016-02-19" NP463495.RAHq9jyAM5CDI68QkuQ2RtLkL9UpAPsdH2QWBV5TlsWHs130_provenance.