Article

Unveiling pathogenic and non-pathogenic FGF14 repeat expansions: identification, sequence, and secondary structure

2024-02-28

Abstract excerpt

<title>Abstract</title> <p>Repeat expansions in <italic>FGF14</italic>cause autosomal dominant late-onset cerebellar ataxia (SCA27B), with pathogenic thresholds estimated between 250 and 300 AAG repeats. However, the complete sequences of pathogenic and non-pathogenic alleles remain largely unknown. Here, we identify <italic>FGF14</italic> repeat expansions as the most commonly missed cause of cerebellar ataxia u...

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Literature Corpus work: 35717a63-2666-53dd-99ae-5e406a69bb1c
DOI: 10.21203/rs.3.rs-3940197/v1

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