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A founder nonâcoding GALT variant interfering with splicing causes galactosemia
Latchman, Kumarie, Brown, Jeanette, Sineni, Claire J., RaginâDames, Lorrien, Guo, Shengru, Huang, Jingyu, Thorson, Willa, Hacker, Stephanie, Barbouth, Deborah, Tekin, Mustafa, Bademci, GuneyJournal:
Journal of Inherited Metabolic Disease
DOI:
10.1002/jimd.12293
Date:
August, 2020
File:
PDF, 1.34 MB
2020