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A founder noncoding GALT variant interfering with splicing causes galactosemia.
Latchman K, Brown J, Sineni CJ, Ragin-Dames L, Guo S, Huang J, Thorson W, Hacker S, Barbouth D, Tekin M, Bademci G. Latchman K, et al. Among authors: huang j. J Inherit Metab Dis. 2020 Nov;43(6):1199-1204. doi: 10.1002/jimd.12293. Epub 2020 Aug 21. J Inherit Metab Dis. 2020. PMID: 32748411
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