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Functional interrogation of contextually-correct MYH7 variants using CRaTER-flox geneediting and contractility

Alexander M Loiben1, Wei-Ming Chien1, Ashley McKinstry1

  • 1Department of Medicine/Cardiology, University of Washington, Seattle, United States of America.

The Journal of Clinical Investigation
|November 25, 2025
PubMed
Summary

No abstract available in PubMed .

Keywords:
CardiologyCardiovascular diseaseGenetic diseasesGeneticsHeart failure

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Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

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