Article

Lightway access to AlphaMissense data that demonstrates a balanced performance of this missense mutation predictor

2023-11-02

Abstract excerpt

Single amino acid substitutions can profoundly affect protein folding, dynamics, and function, leading to potential pathological consequences. The ability to discern between benign and pathogenic substitutions is pivotal for therapeutic interventions and research directions. Given the limitations in experimental examination of these variants, AlphaMissense has emerged as a promising predictor of the pathogenicity...

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Literature Corpus work: 1783329d-d7f5-5e14-aaf0-7f2dedf98c69
DOI: 10.1101/2023.10.30.564807

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