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Dynamicasome! Comprehensive Mutational Analysis and AI-Driven Prediction of PMM2 Pathogenicity: Integrating Molecular Dynamics Simulations with Machine Learning Models

2025-01-24

Abstract excerpt

<title>Abstract</title> <p>Advances in genomic medicine have accelerated the identification of mutations in disease- associated genes, but the pathogenicity of many mutations remains unknown, hindering their use in diagnostics and clinical decision-making. Predictive AI models have been generated to combat this issue, but current tools display low accuracy when tested against functionally validated datasets. We s...

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Literature Corpus work: c1c8a281-6edf-5bc0-923c-bab62ca78dc8
DOI: 10.21203/rs.3.rs-5538161/v1

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