Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP956895.RAPOJrhx-DiWUZJMGnmNyNboddyHJsgtyfCntX5gnYvdk#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 11780689 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.