Shortcast: A serendipitous journey to a promoter variant in OTC

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

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

Episode metadata supplied by the publisher feed · Published Apr 28, 2022

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Shortcast: A serendipitous journey to a promoter variant in OTC

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