Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP420079.RAGD5ku3hBWQPl8-M36FeDPeU37JoXj_FjoYLSk4GqImY130_assertion> ?p ?o ?g. }
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- NP420079.RAGD5ku3hBWQPl8-M36FeDPeU37JoXj_FjoYLSk4GqImY130_assertion type Assertion NP420079.RAGD5ku3hBWQPl8-M36FeDPeU37JoXj_FjoYLSk4GqImY130_head.
- NP420079.RAGD5ku3hBWQPl8-M36FeDPeU37JoXj_FjoYLSk4GqImY130_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." NP420079.RAGD5ku3hBWQPl8-M36FeDPeU37JoXj_FjoYLSk4GqImY130_provenance.
- NP420079.RAGD5ku3hBWQPl8-M36FeDPeU37JoXj_FjoYLSk4GqImY130_assertion evidence source_evidence_literature NP420079.RAGD5ku3hBWQPl8-M36FeDPeU37JoXj_FjoYLSk4GqImY130_provenance.
- NP420079.RAGD5ku3hBWQPl8-M36FeDPeU37JoXj_FjoYLSk4GqImY130_assertion SIO_000772 14610273 NP420079.RAGD5ku3hBWQPl8-M36FeDPeU37JoXj_FjoYLSk4GqImY130_provenance.
- NP420079.RAGD5ku3hBWQPl8-M36FeDPeU37JoXj_FjoYLSk4GqImY130_assertion wasDerivedFrom befree-2016 NP420079.RAGD5ku3hBWQPl8-M36FeDPeU37JoXj_FjoYLSk4GqImY130_provenance.
- NP420079.RAGD5ku3hBWQPl8-M36FeDPeU37JoXj_FjoYLSk4GqImY130_assertion wasGeneratedBy ECO_0000203 NP420079.RAGD5ku3hBWQPl8-M36FeDPeU37JoXj_FjoYLSk4GqImY130_provenance.