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September 26, 2018 By opticiancertif

Incomplete penetrance

The concept that even though several members of a family or population may have the same DNA mutation, not everyone with that mutation will have or develop the disease. This is in contrast to variable expressivity which means that people with the same disease have varying disease severity. Penetrance, in contrast, is more of a yes/no question ? does or does not the person have the disease.

Related Links

Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes — Human Molecular Genetics — Oxford Academic

Reduced penetrance in human inherited disease – ScienceDirect

Penetrance, Variable Expressivity, and Gene Modifiers — Learn Science at Scitable

Understanding genetics: What are “penetrance” and “expressivity”? – Helix Blog

The Genetics of Eye Color

Incomplete penetrance of biallelic ALDH1A3 mutations. – PubMed – NCBI

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