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Understanding the Impact of EEF1A2 D91N Variant on Protein Stability

The parent of a child with a heterozygous EEF1A2 D91N variant seeks to understand whether this variant affects protein stability rather than disrupting function. They aim to compare wild-type EEF1A2 and D91N using molecular dynamics simulations to determine if the variant is mildly destabilizing or causes complete loss-of-function.

Science, Biology, Molecular Biology