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- W2604203234 abstract "Identical disease‐causing mutations can lead to different symptoms in different people. The reason for this has been a puzzling problem for geneticists. Differential penetrance and expressivity of mutations has been observed within individuals with different and similar genetic backgrounds. Attempts have been made to uncover the underlying mechanisms that determine differential phenotypic effects of identical mutations through studies of model organisms. From these studies evidence is accumulating that to understand disease mechanism or predict disease prevalence, an understanding of the influence of genetic background is as important as the putative disease‐causing mutations of relatively large effect. This review highlights current insights into phenotypic variation due to gene interactions, epigenetics and stochasticity in model organisms, and discusses their importance for understanding the mutational effect on disease symptoms." @default.
- W2604203234 created "2017-04-14" @default.
- W2604203234 creator A5029906460 @default.
- W2604203234 date "2017-05-10" @default.
- W2604203234 modified "2023-09-30" @default.
- W2604203234 title "The background puzzle: how identical mutations in the same gene lead to different disease symptoms" @default.
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- W2604203234 doi "https://doi.org/10.1111/febs.14080" @default.
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