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Updated: Apr 3, 2026

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
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[Forecasting formation and course of vibration disease on basis of genetic metabolic markers study]
Meditsina Truda I Promyshlennaia Ekologiia
|September 16, 2015
Abstract:
Analyzing distribution of genotype polymorphism occurrence of Pro l98Leu gene of GPX1 (glutathion peroxidase) and Ala 16 Val gene of MnSOD (superoxide dismutase), the authors presented major mechanisms and leading pathogenetic factors of vibration disease formation and course in post-contact period. The article covers also results of metabolic processes evaluation in patients with varying resistence to occupational vibration, for forecasting its course after discontinued contact with the factor.
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