Article

FAN1 nuclease activity affects CAG expansion and age at onset of Huntington’s disease

2021-04-14

Abstract excerpt

<h4>Summary</h4> The age at onset of motor symptoms in Huntington’s disease (HD) is driven by HTT CAG repeat length but modified by other genes. We used exome sequencing of 683 HD patients with extremes of onset or phenotype relative to CAG length to identify rare variants associated with clinical effect. We identified damaging coding variants in candidate modifier genes from prior genome-wide association studie...

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Literature Corpus work: 26240b48-0bc6-5136-82cf-7979f5f14e29
DOI: 10.1101/2021.04.13.439716

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