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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 Wallis, Ernest Butler, Kishore R. Kumar, Kathy H. C. Wu, Susan E Tomlinson, Stephen Tisch, Abhishek Malhotra, Matthew Lee‐Archer, Egor Dolzhenko, Michael A. Eberle, L. Jackson Roberts, Brent L. Fogel, Norbert Brüggemann, Katja Lohmann, Martin B. Delatycki, Melanie Bahlo, Paul J. Lockhart

2023The American Journal of Human Genetics58 citationsDOIOpen Access PDF

Topics & Concepts

AtaxiaTrinucleotide repeat expansionGeneticsBiologyNeuroscienceGeneAlleleGenetic Neurodegenerative DiseasesCancer, Hypoxia, and MetabolismCancer-related Molecular Pathways
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14 | Litcius