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Sequence of DNA that codes for the production of proteins.

Use in clinical context

Proteins are key to cellular form and function. Changes within regions of the genome that code for proteins (genes) can lead to proteins malfunctioning or not being formed at all. Most functional variants in the genome that have been identified are within protein-coding regions and the majority of rare diseases are caused by variants in protein-coding regions.

Last updated on 31st May, 2019