Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP341298.RAutin-6tUWN4c7dbwmtHGVw2JvYkJlVA4IQ770lHPLRk130_assertion> ?p ?o ?g. }
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- NP341298.RAutin-6tUWN4c7dbwmtHGVw2JvYkJlVA4IQ770lHPLRk130_assertion type Assertion NP341298.RAutin-6tUWN4c7dbwmtHGVw2JvYkJlVA4IQ770lHPLRk130_head.
- NP341298.RAutin-6tUWN4c7dbwmtHGVw2JvYkJlVA4IQ770lHPLRk130_assertion description "[The hypocalciuric, hypomagnesemic variant of Bartter syndrome (Gitelman syndrome), presents in early adulthood with predominantly musculoskeletal symptoms and is due to mutations in the gene encoding the Na-Cl cotransporter (NCCT).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP341298.RAutin-6tUWN4c7dbwmtHGVw2JvYkJlVA4IQ770lHPLRk130_provenance.
- NP341298.RAutin-6tUWN4c7dbwmtHGVw2JvYkJlVA4IQ770lHPLRk130_assertion evidence source_evidence_literature NP341298.RAutin-6tUWN4c7dbwmtHGVw2JvYkJlVA4IQ770lHPLRk130_provenance.
- NP341298.RAutin-6tUWN4c7dbwmtHGVw2JvYkJlVA4IQ770lHPLRk130_assertion SIO_000772 11780689 NP341298.RAutin-6tUWN4c7dbwmtHGVw2JvYkJlVA4IQ770lHPLRk130_provenance.
- NP341298.RAutin-6tUWN4c7dbwmtHGVw2JvYkJlVA4IQ770lHPLRk130_assertion wasDerivedFrom befree-2016 NP341298.RAutin-6tUWN4c7dbwmtHGVw2JvYkJlVA4IQ770lHPLRk130_provenance.
- NP341298.RAutin-6tUWN4c7dbwmtHGVw2JvYkJlVA4IQ770lHPLRk130_assertion wasGeneratedBy ECO_0000203 NP341298.RAutin-6tUWN4c7dbwmtHGVw2JvYkJlVA4IQ770lHPLRk130_provenance.