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Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I.

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Title: Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I.
Authors: Lo, Russell S.1 (AUTHOR), Cromie, Gareth A.1 (AUTHOR), Tang, Michelle1 (AUTHOR), Sirr, Amy1 (AUTHOR), Caldovic, Ljubica2 (AUTHOR), Morizono, Hiroki2 (AUTHOR), Ah Mew, Nicholas3 (AUTHOR), Gropman, Andrea4 (AUTHOR), Dudley, Aimée M.1 (AUTHOR) aimee.dudley@gmail.com
Source: PLoS Genetics. 6/17/2026, Vol. 22 Issue 6, p1-22. 22p.
Database: Academic Search Ultimate
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ISSN:15537390
DOI:10.1371/journal.pgen.1012167