Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP608335.RAroUP5UoMQcKshAS_avaWgwa962HkN0P2K7ff-sTgzgE130_assertion> ?p ?o ?g. }
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- NP608335.RAroUP5UoMQcKshAS_avaWgwa962HkN0P2K7ff-sTgzgE130_assertion type Assertion NP608335.RAroUP5UoMQcKshAS_avaWgwa962HkN0P2K7ff-sTgzgE130_head.
- NP608335.RAroUP5UoMQcKshAS_avaWgwa962HkN0P2K7ff-sTgzgE130_assertion description "[We identified the missense mutation M520R in the calmodulin binding domain of the Kv7.1 channel from a German family with long QT-syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP608335.RAroUP5UoMQcKshAS_avaWgwa962HkN0P2K7ff-sTgzgE130_provenance.
- NP608335.RAroUP5UoMQcKshAS_avaWgwa962HkN0P2K7ff-sTgzgE130_assertion evidence source_evidence_literature NP608335.RAroUP5UoMQcKshAS_avaWgwa962HkN0P2K7ff-sTgzgE130_provenance.
- NP608335.RAroUP5UoMQcKshAS_avaWgwa962HkN0P2K7ff-sTgzgE130_assertion SIO_000772 17482572 NP608335.RAroUP5UoMQcKshAS_avaWgwa962HkN0P2K7ff-sTgzgE130_provenance.
- NP608335.RAroUP5UoMQcKshAS_avaWgwa962HkN0P2K7ff-sTgzgE130_assertion wasDerivedFrom befree-2016 NP608335.RAroUP5UoMQcKshAS_avaWgwa962HkN0P2K7ff-sTgzgE130_provenance.
- NP608335.RAroUP5UoMQcKshAS_avaWgwa962HkN0P2K7ff-sTgzgE130_assertion wasGeneratedBy ECO_0000203 NP608335.RAroUP5UoMQcKshAS_avaWgwa962HkN0P2K7ff-sTgzgE130_provenance.