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An Intronic GAA Repeat Expansion in FGF14 Causes the Autosomal-Dominant Adult-Onset Ataxia SCA27B/ATX-FGF14

Haloom Rafehi,Justin Read,David J. Szmulewicz,Kayli C. Davies,Penny Snell,Liam G. Fearnley,Liam Scott,Mirja Thomsen,Greta Gillies,Kate Pope,Mark F. Bennett,Jacob E. Munro,Kathie J. Ngo,Luke Chen,Mathew J. Wallis,Ernest G. Butler,Kishore R. Kumar,Kathy HC. Wu,Susan E. Tomlinson,Stephen Tisch

The American Journal of Human Genetics（2023）

Cited 18|Views36
Key words
ataxia,repeat expansions,short tandem repeats,whole-genome sequencing,cerebellar ataxia,bilateral vestibulopathy
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