A founder noncoding GALT variant interfering with splicing causes galactosemia

Overview of attention for article published in Journal of Inherited Metabolic Disease, August 2020

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RT @JIMD_Editors: New article: A founder non‐coding GALT variant interfering with splicing causes galactosemia Kumarie Latchman et al prese…

New article: A founder non‐coding GALT variant interfering with splicing causes galactosemia Kumarie Latchman et al present a deep intronic GALT variant leading to a biochemical variant form of galactosemia with enzyme activity 20-34% of normal https://t.…

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