Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP379861.RAjxffuR3Y91sGz7AvLJkUm5O9ksqGRmewV3B0kSfgwb0130_assertion> ?p ?o ?g. }
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- NP379861.RAjxffuR3Y91sGz7AvLJkUm5O9ksqGRmewV3B0kSfgwb0130_assertion type Assertion NP379861.RAjxffuR3Y91sGz7AvLJkUm5O9ksqGRmewV3B0kSfgwb0130_head.
- NP379861.RAjxffuR3Y91sGz7AvLJkUm5O9ksqGRmewV3B0kSfgwb0130_assertion wasGeneratedBy ECO_0000203 NP379861.RAjxffuR3Y91sGz7AvLJkUm5O9ksqGRmewV3B0kSfgwb0130_provenance.
- NP379861.RAjxffuR3Y91sGz7AvLJkUm5O9ksqGRmewV3B0kSfgwb0130_assertion wasDerivedFrom befree-2016 NP379861.RAjxffuR3Y91sGz7AvLJkUm5O9ksqGRmewV3B0kSfgwb0130_provenance.
- NP379861.RAjxffuR3Y91sGz7AvLJkUm5O9ksqGRmewV3B0kSfgwb0130_assertion SIO_000772 12522251 NP379861.RAjxffuR3Y91sGz7AvLJkUm5O9ksqGRmewV3B0kSfgwb0130_provenance.
- NP379861.RAjxffuR3Y91sGz7AvLJkUm5O9ksqGRmewV3B0kSfgwb0130_assertion evidence source_evidence_literature NP379861.RAjxffuR3Y91sGz7AvLJkUm5O9ksqGRmewV3B0kSfgwb0130_provenance.
- NP379861.RAjxffuR3Y91sGz7AvLJkUm5O9ksqGRmewV3B0kSfgwb0130_assertion description "[Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1 and the KCNQ1/KCNE2 currents, which contrasts with the dominant negative or loss-of-function effects of the KCNQ1 mutations previously identified in patients with long QT syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP379861.RAjxffuR3Y91sGz7AvLJkUm5O9ksqGRmewV3B0kSfgwb0130_provenance.