P007: A case series and functional study of two commonly reported pathogenic variants in OTC supports a hypomorphic classification

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Bibliographic Details
Main Authors:	Steven Lang, Russell Lo, Gareth Cromie, Aimée Dudley, Nicholas Ah Mew, Vernon Sutton, Sandra Darilek, Saima Ali, Matthew Snyder, Brendan Lee, Ronit Marom, Sandesh Nagamani, Lindsay Burrage
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774425008908
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