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Loss-of-function mutations

[loss-of-function mutation, loss-of-function mutant, loss-of-function mutants]

abbr. sometimes LOF mutations. This is a general term for any kind of mutation that inactivates the gene in which it occurs, the result usually being the absence of the gene product encoded by this gene (see also: gene expression). Such mutations may occur naturally or may be the result of experimentally changing the gene in question at the nucleotide level (see also: Knock-out). For the opposite, i.e., a gain of function that the normal protein encoded by the gene in question does not possess, see also: gain-of-function mutations.

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