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

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

    Published 2025-01-01
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