2023
DOI: 10.1101/2023.10.31.564874
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DystoGen Compendium: A comprehensive resource of ACMG annotated movement disorder associated genetic variants

Bhaskar Jyoti Saikia,
Utkarsh Gaharwar,
Mukta Poojary
et al.

Abstract: PurposeIn recent years, the advent of high throughput sequencing techniques has led to the identification of a number of genetic variants across different genes that are associated with movement disorders. However, the under-appreciation of the variant spectrum in movement disorders and the lack of consolidated and systematic evidence-based annotation of these variants has long undermined the true potential of genomic approaches to expedite precision medicine.MethodsWe manually curated the genetic variants fro… Show more

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