Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP700427.RAVL-Jha28uCmtyhFdtK5ZSm3oEoo-S_c5nrsJa2GKaUs130_assertion> ?p ?o ?g. }
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- NP700427.RAVL-Jha28uCmtyhFdtK5ZSm3oEoo-S_c5nrsJa2GKaUs130_assertion type Assertion NP700427.RAVL-Jha28uCmtyhFdtK5ZSm3oEoo-S_c5nrsJa2GKaUs130_head.
- NP700427.RAVL-Jha28uCmtyhFdtK5ZSm3oEoo-S_c5nrsJa2GKaUs130_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." NP700427.RAVL-Jha28uCmtyhFdtK5ZSm3oEoo-S_c5nrsJa2GKaUs130_provenance.
- NP700427.RAVL-Jha28uCmtyhFdtK5ZSm3oEoo-S_c5nrsJa2GKaUs130_assertion evidence source_evidence_literature NP700427.RAVL-Jha28uCmtyhFdtK5ZSm3oEoo-S_c5nrsJa2GKaUs130_provenance.
- NP700427.RAVL-Jha28uCmtyhFdtK5ZSm3oEoo-S_c5nrsJa2GKaUs130_assertion SIO_000772 11780689 NP700427.RAVL-Jha28uCmtyhFdtK5ZSm3oEoo-S_c5nrsJa2GKaUs130_provenance.
- NP700427.RAVL-Jha28uCmtyhFdtK5ZSm3oEoo-S_c5nrsJa2GKaUs130_assertion wasDerivedFrom befree-20150227 NP700427.RAVL-Jha28uCmtyhFdtK5ZSm3oEoo-S_c5nrsJa2GKaUs130_provenance.
- NP700427.RAVL-Jha28uCmtyhFdtK5ZSm3oEoo-S_c5nrsJa2GKaUs130_assertion wasGeneratedBy ECO_0000203 NP700427.RAVL-Jha28uCmtyhFdtK5ZSm3oEoo-S_c5nrsJa2GKaUs130_provenance.