Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP480816.RAS2JDVKV_7m_l52c8dsxxT4nJGEES7PeUM8P-Zi8ii7g130_assertion> ?p ?o ?g. }
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- NP480816.RAS2JDVKV_7m_l52c8dsxxT4nJGEES7PeUM8P-Zi8ii7g130_assertion type Assertion NP480816.RAS2JDVKV_7m_l52c8dsxxT4nJGEES7PeUM8P-Zi8ii7g130_head.
- NP480816.RAS2JDVKV_7m_l52c8dsxxT4nJGEES7PeUM8P-Zi8ii7g130_assertion description "[Human mutations in CLC channels are known to cause diseases as diverse as myotonia (muscle stiffness), Bartter syndrome (renal salt loss) with or without deafness, Dent's disease (proteinuria and kidney stones), osteopetrosis and neurodegeneration, and possibly epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP480816.RAS2JDVKV_7m_l52c8dsxxT4nJGEES7PeUM8P-Zi8ii7g130_provenance.
- NP480816.RAS2JDVKV_7m_l52c8dsxxT4nJGEES7PeUM8P-Zi8ii7g130_assertion evidence source_evidence_literature NP480816.RAS2JDVKV_7m_l52c8dsxxT4nJGEES7PeUM8P-Zi8ii7g130_provenance.
- NP480816.RAS2JDVKV_7m_l52c8dsxxT4nJGEES7PeUM8P-Zi8ii7g130_assertion SIO_000772 15709978 NP480816.RAS2JDVKV_7m_l52c8dsxxT4nJGEES7PeUM8P-Zi8ii7g130_provenance.
- NP480816.RAS2JDVKV_7m_l52c8dsxxT4nJGEES7PeUM8P-Zi8ii7g130_assertion wasDerivedFrom befree-2016 NP480816.RAS2JDVKV_7m_l52c8dsxxT4nJGEES7PeUM8P-Zi8ii7g130_provenance.
- NP480816.RAS2JDVKV_7m_l52c8dsxxT4nJGEES7PeUM8P-Zi8ii7g130_assertion wasGeneratedBy ECO_0000203 NP480816.RAS2JDVKV_7m_l52c8dsxxT4nJGEES7PeUM8P-Zi8ii7g130_provenance.