Shortcast: A serendipitous journey to a promoter variant in OTC
Apr 28, 2022•4 min
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Episode description
Ashley Hertzog discusses the identification of an unexpected promoter variant as a cause of late-onset OTC deficiency.
A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency
Ashley Hertzog, et al
https://doi.org/10.1002/jmd2.12289
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