Understanding the missense variant in your family by Claire Green

Описание к видео Understanding the missense variant in your family by Claire Green

This extends from the podcast 'Determining if a missense variant is the cause of disease' and explains how if a variant is found to be pathogenic/disease-causing, this may translate into a disease state. It describes how a variation in the gene sequence affects protein formation, consequently causing a disease to develop, depending on the function of the protein and/or the effect of the gene change on the protein.

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