Protein-truncating variants (PTVs) are genetic variants predicted to shorten the coding sequence of genes,[1] through ways like a stop-gain mutation.
[2][3][4][5] PTV is sometime categorized under the umbrella term frameshift or truncating variants (FTVs), which includes both PTVs and DNA variants caused by frameshift mutation.
It was believed that protein-truncating variants are not associated with human diseases.
[2] Recent studies have implied the involvement of PTVs in autism spectrum disorder.
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