Article

A novel intronic GAA repeat expansion in<i>FGF14</i>causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14)

2022-10-25

Abstract excerpt

<h4>ABSTRACT</h4> Adult-onset cerebellar ataxias are a group of neurodegenerative conditions that challenge both genetic discovery and molecular diagnosis. In this study, we identified a novel intronic GAA repeat expansion in the gene encoding Fibroblast Growth Factor 14 ( FGF14 ). Genetic analysis identified 4/95 previously unresolved Australian affected individuals (4.2%) with (GAA) >335 and a further nine indiv...

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Literature Corpus work: bb9d0a67-53a3-5da7-9b4c-130c9f6a8fe6
DOI: 10.1101/2022.10.21.22281020

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