An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
31 auth.
Haloom Rafehi,
Justin Read,
D. Szmulewicz,
Kayli C. Davies,
Penny Snell,
Liam G. Fearnley,
Liam Scott,
M. Thomsen,
Greta Gillies,
K. Pope,
M. Bennett,
J. Munro,
Kathie J. Ngo,
Luke Chen,
M. Wallis,
...
Ernest G. Butler,
K. Kumar,
Kathy H C Wu,
S. Tomlinson,
S. Tisch,
A. Malhotra,
Matthew Lee-Archer,
E. Dolzhenko,
M. Eberle,
Leslie J Roberts,
B. Fogel,
N. Brüggemann,
K. Lohmann,
M. Delatycki,
M. Bahlo,
P. Lockhart
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2022 |
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