An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 (vol 110, pg 105, 2023)
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,Abhishek Malhotra, Matthew Lee-Archer,Egor Dolzhenko,Michael A. Eberle,Leslie J. Roberts,Brent L. Fogel,Norbert Bruggemann, Katja Lohmann,Martin B. Delatycki,Melanie Bahlo,Paul J. Lockhart AMERICAN JOURNAL OF HUMAN GENETICS（2023）
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