Article
The relative fitness of the de novo variants in general Lithuanian population vs. in individuals with intellectual disability.
European journal of human genetics : EJHG - 1 Mar 2022
Pranckėnienė Laura, Kučinskas Vaidutis
Abstract excerpt
The effect of a variant on an organism is always multifaceted and can be considered from multiple perspectives-biochemical, medical, or evolutionary. However, the relationship between the effects of amino acid substitution on protein activity, human health, and an individual's evolutionary fitness is not trivial. We uncover that the general Lithuanian population is characterized by a "mirror reflection" of the de...
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