Article

Genetic testing for<i>SCA27B</i>in Korean Multiple System Atrophy

2024-10-22

Abstract excerpt

<h4>ABSTRACT</h4> FGF14 (GAA) n repeat expansions are a common cause of idiopathic late-onset ataxia (SCA27B). The cerebellar form of multiple system atrophy (MSA) has comparable clinical features, albeit faster progression. Hence, we performed an analysis of FGF14 genomic variability in a South Korean cohort of 199 patients with ‘probable’ MSA, compared with 1,048 ethnically-matched controls. All whole genome seq...

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Literature Corpus work: 02a5a6b9-8849-5a9b-963e-7692a3cfdd40
DOI: 10.1101/2024.10.21.24315855

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