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Understanding the missense variant in your family by Claire Green
Автор: ClinicalGenetics
Загружено: 8 окт. 2011 г.
Просмотров: 311 просмотров
Описание:
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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