Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_assertion> ?p ?o ?g. }
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- NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_assertion type Assertion NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_head.
- NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_assertion description "[Genetic studies in humans have shown that large intronic deletions in WNK1 lead to its overexpression and are responsible for pseudohypoaldosteronism type II, an autosomal dominant disorder characterized by hypertension, increased renal salt reabsorption, and impaired K+ and H+ excretion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_provenance.
- NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_assertion evidence source_evidence_literature NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_provenance.
- NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_assertion SIO_000772 14610273 NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_provenance.
- NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_assertion wasDerivedFrom befree-2016 NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_provenance.
- NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_assertion wasGeneratedBy ECO_0000203 NP420078.RAUn5kriG38WzlFhQbw0tX7maUOU93UiCYDFXIxrPeXR8130_provenance.