vimatics

vi medicine informatics

Oneliner_2344

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OneLiner

Eg: If a BRCA1 mutation is inherited in an autosomal dominant pattern and exhibits a phenotypically variable presentation. This is called incomplete penetrance. A mutation may be harbored and inherited by family members, yet its expression depends on the extent of its penetrance. The risk of expressing a phenotype then becomes the percent of penetrance multiplied by the probability of inheritance.

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