Article

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia

2022-06-27

Abstract excerpt

Improvements in functional genomic annotation have led to a critical mass of neurogenetic discoveries. This is exemplified in hereditary ataxia, a heterogeneous group of disorders characterised by incoordination from cerebellar dysfunction. Associated pathogenic variants in more than 300 genes have been described, leading to a detailed genetic classification partitioned by age-of-onset. Despite these advances, up...

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Literature Corpus work: 2f7c12ca-b34f-53e8-9319-c1500ee8ac49
DOI: 10.1101/2022.06.24.22276803

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