HMGGP Annual Retreat
Oct 4, 2026·
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1 min read
Curtis Coughlin II
Nicole presented her work focused on interpreting variants of unknown significance for ornithine transcarbamylase (OTC) deficiency. This work used an e.coli-based expression vector and RNA studies using an OTC minigene.
Nicole also present this work at the Society for Inherited Metabolic Disorders meeting in May 2026 and at the Urea Cycle Consortium Meeting in July 2026.
