Article
Statistical Dissection of the Genetic Determinants of Phenotypic Heterogeneity in Genes with Multiple Associated Rare Diseases.
Genes - 18 Nov 2023
Lazareva Tatyana E, Barbitoff Yury A, Nasykhova Yulia A, Pavlova Nadezhda S, Bogaychuk Polina M, Glotov Andrey S
Abstract excerpt
Phenotypicheterogeneity is a phenomenon in which distinct phenotypes can develop in individuals bearing pathogenic variants in the same gene. Genetic factors, gene interactions, and environmental factors are usually considered the key mechanisms of this phenomenon. Phenotypic heterogeneity may impact the prognosis of the disease severity and symptoms. In our work, we used publicly available data on the...
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