The production by further mutation of a premutation gene from a mutant gene. This reverse mutation restores the ability of the gene to produce a functional protein.
By changing a gene’s instructions for making a protein, a variant can cause a protein to malfunction or to not be produced at all.
When a variant alters a protein that plays a critical role in the body, it can disrupt normal development or cause a health condition.
A condition caused by variants in one or more genes is called a genetic disorder.
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