P065: Canonical splice variant c.298+2T>C in OTC associated with attenuated ornithine transcarbamylase deficiency

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Bibliographic Details
Main Authors: Janhawi Kelkar, Yu Leng Phua, Chunli Yu, Colleen Donnelly, Mary LoPiccolo
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425009483
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