Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion> ?p ?o ?g. }
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- NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion type Assertion NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_head.
- NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_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." NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_provenance.
- NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion evidence source_evidence_literature NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_provenance.
- NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion SIO_000772 15471865 NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_provenance.
- NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion wasDerivedFrom befree-20150227 NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_provenance.
- NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_assertion wasGeneratedBy ECO_0000203 NP801734.RAZ9fNC8PQOikbYsNKTOyMSE7FZy8LI20ZXS1FEyd2xPE130_provenance.