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gain-of-function mutations

[gain-of-function mutation]

abbr. often: GOF mutations. This type of mutation confers new or enhanced activities on a given protein or also on RNAs such as microRNAs. Gain-of-function mutations can be the result, for example, of missense substitutions, frameshift mutations, intragenic inframe deletions, or changes in copy numbers and can appear in both germline and somatic cells, including tumor cells. These mutations usually have pleiotropic effects, leading to the dysregulation of many different pathways, but in many instances, the exact molecular basis for the effects of a gain of function is not yet understood.


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