Article

DystoGen Compendium: A comprehensive resource of ACMG annotated movement disorder associated genetic variants

2023-11-02

Abstract excerpt

<h4>Purpose</h4> In 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 poten...

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Literature Corpus work: f9d88f46-4ed8-5b8e-aa45-2e5e8ffbcaf2
DOI: 10.1101/2023.10.31.564874

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