DystoGen Compendium: A comprehensive resource of ACMG annotated movement disorder associated genetic variants
Bhaskar Jyoti Saikia, Utkarsh Gaharwar, Mukta Poojary…·Balachandran Krishnamma Binukumar
The paper curates and annotates 5118 pathogenic/likely pathogenic variants from 118 movement disorder-associated genes using ACMG & AMP guidelines, creating a comprehensive online compendium called DystoGen.