" /> Protein Truncation Abnormality - CISMeF





Preferred Label : Protein Truncation Abnormality;

NCIt synonyms : Truncation; Protein Truncation;

NCIt definition : Translation of a truncated form of a wild-type protein that originates from a mutation or mutations in the coding sequence of a gene. Genetic alterations that yield truncated protein products include frameshift mutations, nonsense mutations or splice site mutations. The activity of a truncated protein is usually reduced or abolished in comparison to the activity of the wild-type protein.;

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30/07/2025


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