Article

Rare Variant Burden in Known Dystonia Genes in Population Controls and Sporadic Dystonia Patients

2017-09-27

Abstract excerpt

<h4>Background</h4> Rare mutations in genes associated with Mendelian forms of disease are a potential mechanism for sporadic disease. The need to assess the clinical significance of such variants is increasing as personalized medicine and genome sequencing increases. <h4>Objective</h4> To evaluate the rate of rare, functional variants in dystonia genes in the general population to improve interpretation of the...

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Literature Corpus work: 9f695320-2c24-51b9-8686-4c1b11e006ed
DOI: 10.1101/194399

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